Canonical Allele Identifier: CA244535048
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs1034180632

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997551C>A , CM000674.2:g.120997551C>A GRCh38
NC_000012.11:g.121435354C>A , CM000674.1:g.121435354C>A GRCh37
NC_000012.10:g.119919737C>A NCBI36
NG_011731.2:g.23806C>A , LRG_522:g.23806C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*134C>A ENSP00000453965.2:n.*134C>A
ENST00000257555.11:c.1387C>A MANE Select ENSP00000257555.5:p.Gln463Lys
ENST00000257555.10:c.1387C>A ENSP00000257555.4:p.Gln463Lys
ENST00000400024.6:c.1387C>A ENSP00000476181.1:p.Gln463Lys
ENST00000402929.5:n.2253C>A
ENST00000535955.5:n.103C>A
ENST00000538626.2:n.251C>A
ENST00000538646.5:c.*363C>A ENSP00000443964.1:n.*363C>A
ENST00000540108.1:c.*827C>A ENSP00000445445.1:n.*827C>A
ENST00000541395.5:c.1387C>A ENSP00000443112.1:p.Gln463Lys
ENST00000541924.5:c.*401C>A ENSP00000440361.1:n.*401C>A
ENST00000543255.1:n.431C>A
ENST00000543427.5:c.850C>A ENSP00000439721.2:p.Gln284Lys
ENST00000544413.2:c.1387C>A ENSP00000438804.1:p.Gln463Lys
ENST00000544574.5:c.*150C>A ENSP00000438565.1:n.*150C>A
ENST00000560968.5:c.1204C>A
ENST00000615446.4:c.175C>A ENSP00000483994.1:p.Gln59Lys
ENST00000617366.4:c.587-83C>A ENSP00000481967.1:n.587-83C>A
NM_000545.5:c.1387C>A , LRG_522t1:c.1387C>A NP_000536.5:p.Gln463Lys
NM_000545.6:c.1387C>A NP_000536.5:p.Gln463Lys
NM_001306179.1:c.1387C>A NP_001293108.1:p.Gln463Lys
XM_005253931.2:c.1387C>A XP_005253988.1:p.Gln463Lys
XM_024449168.1:c.1387C>A XP_024304936.1:p.Gln463Lys
NM_000545.8:c.1387C>A MANE Select NP_000536.6:p.Gln463Lys
NM_001306179.2:c.1387C>A NP_001293108.2:p.Gln463Lys