Canonical Allele Identifier: CA2621391212
Gene: HNF1A HGNC NCBI

Linked Data

gnomAD v4: 12-120997826-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997826G>T , CM000674.2:g.120997826G>T GRCh38
NC_000012.11:g.121435629G>T , CM000674.1:g.121435629G>T GRCh37
NC_000012.10:g.119920012G>T NCBI36
NG_011731.2:g.24081G>T , LRG_522:g.24081G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+161G>T ENSP00000453965.2:n.*248+161G>T
ENST00000257555.11:c.1501+161G>T MANE Select ENSP00000257555.5:n.1501+161G>T
ENST00000257555.10:c.1501+161G>T ENSP00000257555.4:n.1501+161G>T
ENST00000400024.6:c.*33G>T ENSP00000476181.1:n.*33G>T
ENST00000402929.5:n.2528G>T
ENST00000535955.5:n.378G>T
ENST00000538626.2:n.526G>T
ENST00000538646.5:c.*638G>T ENSP00000443964.1:n.*638G>T
ENST00000540108.1:c.*941+161G>T ENSP00000445445.1:n.*941+161G>T
ENST00000541395.5:c.1501+161G>T ENSP00000443112.1:n.1501+161G>T
ENST00000541924.5:c.*676G>T ENSP00000440361.1:n.*676G>T
ENST00000543255.1:n.706G>T
ENST00000543427.5:c.964+161G>T ENSP00000439721.2:n.964+161G>T
ENST00000544413.2:c.1501+161G>T ENSP00000438804.1:n.1501+161G>T
ENST00000544574.5:c.*425G>T ENSP00000438565.1:n.*425G>T
ENST00000560968.5:c.1318+161G>T
ENST00000615446.4:c.289+161G>T ENSP00000483994.1:n.289+161G>T
ENST00000617366.4:c.618+161G>T ENSP00000481967.1:n.618+161G>T
NM_000545.5:c.1501+161G>T , LRG_522t1:c.1501+161G>T NP_000536.5:n.1501+161G>T
NM_000545.6:c.1501+161G>T NP_000536.5:n.1501+161G>T
NM_001306179.1:c.1501+161G>T NP_001293108.1:n.1501+161G>T
XM_005253931.2:c.1501+161G>T XP_005253988.1:n.1501+161G>T
XM_024449168.1:c.1501+161G>T XP_024304936.1:n.1501+161G>T
NM_000545.8:c.1501+161G>T MANE Select NP_000536.6:n.1501+161G>T
NM_001306179.2:c.1501+161G>T NP_001293108.2:n.1501+161G>T
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