Canonical Allele Identifier: CA386970569
Gene: HNF1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.121435543G>C (hg19) chr12:g.120997740G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997740G>C , CM000674.2:g.120997740G>C GRCh38
NC_000012.11:g.121435543G>C , CM000674.1:g.121435543G>C GRCh37
NC_000012.10:g.119919926G>C NCBI36
NG_011731.2:g.23995G>C , LRG_522:g.23995G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+75G>C ENSP00000453965.2:n.*248+75G>C
ENST00000257555.11:c.1501+75G>C MANE Select ENSP00000257555.5:n.1501+75G>C
ENST00000257555.10:c.1501+75G>C ENSP00000257555.4:n.1501+75G>C
ENST00000400024.6:c.1576G>C ENSP00000476181.1:p.Ala526Pro
ENST00000402929.5:n.2442G>C
ENST00000535955.5:n.292G>C
ENST00000538626.2:n.440G>C
ENST00000538646.5:c.*552G>C ENSP00000443964.1:n.*552G>C
ENST00000540108.1:c.*941+75G>C ENSP00000445445.1:n.*941+75G>C
ENST00000541395.5:c.1501+75G>C ENSP00000443112.1:n.1501+75G>C
ENST00000541924.5:c.*590G>C ENSP00000440361.1:n.*590G>C
ENST00000543255.1:n.620G>C
ENST00000543427.5:c.964+75G>C ENSP00000439721.2:n.964+75G>C
ENST00000544413.2:c.1501+75G>C ENSP00000438804.1:n.1501+75G>C
ENST00000544574.5:c.*339G>C ENSP00000438565.1:n.*339G>C
ENST00000560968.5:c.1318+75G>C
ENST00000615446.4:c.289+75G>C ENSP00000483994.1:n.289+75G>C
ENST00000617366.4:c.618+75G>C ENSP00000481967.1:n.618+75G>C
NM_000545.5:c.1501+75G>C , LRG_522t1:c.1501+75G>C NP_000536.5:n.1501+75G>C
NM_000545.6:c.1501+75G>C NP_000536.5:n.1501+75G>C
NM_001306179.1:c.1501+75G>C NP_001293108.1:n.1501+75G>C
XM_005253931.2:c.1501+75G>C XP_005253988.1:n.1501+75G>C
XM_024449168.1:c.1501+75G>C XP_024304936.1:n.1501+75G>C
NM_000545.8:c.1501+75G>C MANE Select NP_000536.6:n.1501+75G>C
NM_001306179.2:c.1501+75G>C NP_001293108.2:n.1501+75G>C
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