Canonical Allele Identifier: CA2621391144
Gene: HNF1A HGNC NCBI

Linked Data

gnomAD v4: 12-120997697-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997697T>C , CM000674.2:g.120997697T>C GRCh38
NC_000012.11:g.121435500T>C , CM000674.1:g.121435500T>C GRCh37
NC_000012.10:g.119919883T>C NCBI36
NG_011731.2:g.23952T>C , LRG_522:g.23952T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+32T>C ENSP00000453965.2:n.*248+32T>C
ENST00000257555.11:c.1501+32T>C MANE Select ENSP00000257555.5:n.1501+32T>C
ENST00000257555.10:c.1501+32T>C ENSP00000257555.4:n.1501+32T>C
ENST00000400024.6:c.1533T>C ENSP00000476181.1:p.Asp511=
ENST00000402929.5:n.2399T>C
ENST00000535955.5:n.249T>C
ENST00000538626.2:n.397T>C
ENST00000538646.5:c.*509T>C ENSP00000443964.1:n.*509T>C
ENST00000540108.1:c.*941+32T>C ENSP00000445445.1:n.*941+32T>C
ENST00000541395.5:c.1501+32T>C ENSP00000443112.1:n.1501+32T>C
ENST00000541924.5:c.*547T>C ENSP00000440361.1:n.*547T>C
ENST00000543255.1:n.577T>C
ENST00000543427.5:c.964+32T>C ENSP00000439721.2:n.964+32T>C
ENST00000544413.2:c.1501+32T>C ENSP00000438804.1:n.1501+32T>C
ENST00000544574.5:c.*296T>C ENSP00000438565.1:n.*296T>C
ENST00000560968.5:c.1318+32T>C
ENST00000615446.4:c.289+32T>C ENSP00000483994.1:n.289+32T>C
ENST00000617366.4:c.618+32T>C ENSP00000481967.1:n.618+32T>C
NM_000545.5:c.1501+32T>C , LRG_522t1:c.1501+32T>C NP_000536.5:n.1501+32T>C
NM_000545.6:c.1501+32T>C NP_000536.5:n.1501+32T>C
NM_001306179.1:c.1501+32T>C NP_001293108.1:n.1501+32T>C
XM_005253931.2:c.1501+32T>C XP_005253988.1:n.1501+32T>C
XM_024449168.1:c.1501+32T>C XP_024304936.1:n.1501+32T>C
NM_000545.8:c.1501+32T>C MANE Select NP_000536.6:n.1501+32T>C
NM_001306179.2:c.1501+32T>C NP_001293108.2:n.1501+32T>C
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