Canonical Allele Identifier: CA386954959
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1338520
ClinVar RCV Id: RCV001817891 RCV002260404
dbSNP Id: rs2135820424
MyVariant Identifiers: chr12:g.121416898G>T (hg19) chr12:g.120979095G>T (hg38)
ERepo: CA386954959/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120979095G>T , CM000674.2:g.120979095G>T GRCh38
NC_000012.11:g.121416898G>T , CM000674.1:g.121416898G>T GRCh37
NC_000012.10:g.119901281G>T NCBI36
NG_011731.2:g.5350G>T , LRG_522:g.5350G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000560968.6:c.326+1G>T ENSP00000453965.2:n.326+1G>T
ENST00000257555.11:c.326+1G>T MANE Select ENSP00000257555.5:n.326+1G>T
ENST00000257555.10:c.326+1G>T ENSP00000257555.4:n.326+1G>T
ENST00000400024.6:c.326+1G>T ENSP00000476181.1:n.326+1G>T
ENST00000402929.5:n.461+1G>T
ENST00000535955.5:n.42+403G>T
ENST00000538626.2:n.190+255G>T
ENST00000538646.5:c.326+1G>T ENSP00000443964.1:n.326+1G>T
ENST00000540108.1:c.326+1G>T ENSP00000445445.1:n.326+1G>T
ENST00000541395.5:c.326+1G>T ENSP00000443112.1:n.326+1G>T
ENST00000541924.5:c.326+1G>T ENSP00000440361.1:n.326+1G>T
ENST00000543427.5:c.326+1G>T ENSP00000439721.2:n.326+1G>T
ENST00000544413.2:c.326+1G>T ENSP00000438804.1:n.326+1G>T
ENST00000544574.5:c.72+255G>T ENSP00000438565.1:n.72+255G>T
ENST00000560968.5:c.469+1G>T
ENST00000615446.4:c.-258+384G>T ENSP00000483994.1:n.-258+384G>T
ENST00000617366.4:c.326+1G>T ENSP00000481967.1:n.326+1G>T
NM_000545.5:c.326+1G>T , LRG_522t1:c.326+1G>T NP_000536.5:n.326+1G>T
NM_000545.6:c.326+1G>T NP_000536.5:n.326+1G>T
NM_001306179.1:c.326+1G>T NP_001293108.1:n.326+1G>T
XM_005253931.2:c.326+1G>T XP_005253988.1:n.326+1G>T
XM_024449168.1:c.326+1G>T XP_024304936.1:n.326+1G>T
NM_000545.8:c.326+1G>T MANE Select NP_000536.6:n.326+1G>T
NM_001306179.2:c.326+1G>T NP_001293108.2:n.326+1G>T
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