Canonical Allele Identifier: CA13697992
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 676860
ClinVar RCV Id: RCV000836328
dbSNP Id: rs1169302
gnomAD v2: 12-121432302-T-G
gnomAD v3: 12-120994499-T-G
gnomAD v4: 12-120994499-T-G
MyVariant Identifiers: chr12:g.121432302T>G (hg19) chr12:g.120994499T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994499T>G , CM000674.2:g.120994499T>G GRCh38
NC_000012.11:g.121432302T>G , CM000674.1:g.121432302T>G GRCh37
NC_000012.10:g.119916685T>G NCBI36
NG_011731.2:g.20754T>G , LRG_522:g.20754T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.750+299T>G ENSP00000453965.2:n.750+299T>G
ENST00000257555.11:c.955+94T>G MANE Select ENSP00000257555.5:n.955+94T>G
ENST00000257555.10:c.955+94T>G ENSP00000257555.4:n.955+94T>G
ENST00000400024.6:c.955+94T>G ENSP00000476181.1:n.955+94T>G
ENST00000402929.5:n.1090+94T>G
ENST00000535955.5:n.43-2992T>G
ENST00000538626.2:n.191-2992T>G
ENST00000538646.5:c.768+94T>G ENSP00000443964.1:n.768+94T>G
ENST00000540108.1:c.*395+94T>G ENSP00000445445.1:n.*395+94T>G
ENST00000541395.5:c.955+94T>G ENSP00000443112.1:n.955+94T>G
ENST00000541924.5:c.713+793T>G ENSP00000440361.1:n.713+793T>G
ENST00000543427.5:c.633+873T>G ENSP00000439721.2:n.633+873T>G
ENST00000544413.2:c.955+94T>G ENSP00000438804.1:n.955+94T>G
ENST00000544574.5:c.73-2118T>G ENSP00000438565.1:n.73-2118T>G
ENST00000560968.5:c.893+299T>G
ENST00000615446.4:c.-257-1763T>G ENSP00000483994.1:n.-257-1763T>G
ENST00000617366.4:c.586+920T>G ENSP00000481967.1:n.586+920T>G
NM_000545.5:c.955+94T>G , LRG_522t1:c.955+94T>G NP_000536.5:n.955+94T>G
NM_000545.6:c.955+94T>G NP_000536.5:n.955+94T>G
NM_001306179.1:c.955+94T>G NP_001293108.1:n.955+94T>G
XM_005253931.2:c.955+94T>G XP_005253988.1:n.955+94T>G
XM_024449168.1:c.955+94T>G XP_024304936.1:n.955+94T>G
NM_000545.8:c.955+94T>G MANE Select NP_000536.6:n.955+94T>G
NM_001306179.2:c.955+94T>G NP_001293108.2:n.955+94T>G
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