Canonical Allele Identifier: CA2067686382
Gene: HNF1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997683C= , CM000674.2:g.120997683C= GRCh38
NC_000012.11:g.121435486C= , CM000674.1:g.121435486C= GRCh37
NC_000012.10:g.119919869C= NCBI36
NG_011731.2:g.23938C= , LRG_522:g.23938C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+18C= ENSP00000453965.2:n.*248+18C=
ENST00000257555.11:c.1501+18C= MANE Select ENSP00000257555.5:n.1501+18C=
ENST00000257555.10:c.1501+18C= ENSP00000257555.4:n.1501+18C=
ENST00000400024.6:c.1519C= ENSP00000476181.1:p.His507=
ENST00000402929.5:n.2385C=
ENST00000535955.5:n.235C=
ENST00000538626.2:n.383C=
ENST00000538646.5:c.*495C= ENSP00000443964.1:n.*495C=
ENST00000540108.1:c.*941+18C= ENSP00000445445.1:n.*941+18C=
ENST00000541395.5:c.1501+18C= ENSP00000443112.1:n.1501+18C=
ENST00000541924.5:c.*533C= ENSP00000440361.1:n.*533C=
ENST00000543255.1:n.563C=
ENST00000543427.5:c.964+18C= ENSP00000439721.2:n.964+18C=
ENST00000544413.2:c.1501+18C= ENSP00000438804.1:n.1501+18C=
ENST00000544574.5:c.*282C= ENSP00000438565.1:n.*282C=
ENST00000560968.5:c.1318+18C=
ENST00000615446.4:c.289+18C= ENSP00000483994.1:n.289+18C=
ENST00000617366.4:c.618+18C= ENSP00000481967.1:n.618+18C=
NM_000545.5:c.1501+18C= , LRG_522t1:c.1501+18C= NP_000536.5:n.1501+18C=
NM_000545.6:c.1501+18C= NP_000536.5:n.1501+18C=
NM_001306179.1:c.1501+18C= NP_001293108.1:n.1501+18C=
XM_005253931.2:c.1501+18C= XP_005253988.1:n.1501+18C=
XM_024449168.1:c.1501+18C= XP_024304936.1:n.1501+18C=
NM_000545.8:c.1501+18C= MANE Select NP_000536.6:n.1501+18C=
NM_001306179.2:c.1501+18C= NP_001293108.2:n.1501+18C=
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