Canonical Allele Identifier: CA2621391169
Gene: HNF1A HGNC NCBI

Linked Data

gnomAD v4: 12-120997796-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997796G>T , CM000674.2:g.120997796G>T GRCh38
NC_000012.11:g.121435599G>T , CM000674.1:g.121435599G>T GRCh37
NC_000012.10:g.119919982G>T NCBI36
NG_011731.2:g.24051G>T , LRG_522:g.24051G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*248+131G>T ENSP00000453965.2:n.*248+131G>T
ENST00000257555.11:c.1501+131G>T MANE Select ENSP00000257555.5:n.1501+131G>T
ENST00000257555.10:c.1501+131G>T ENSP00000257555.4:n.1501+131G>T
ENST00000400024.6:c.*3G>T ENSP00000476181.1:n.*3G>T
ENST00000402929.5:n.2498G>T
ENST00000535955.5:n.348G>T
ENST00000538626.2:n.496G>T
ENST00000538646.5:c.*608G>T ENSP00000443964.1:n.*608G>T
ENST00000540108.1:c.*941+131G>T ENSP00000445445.1:n.*941+131G>T
ENST00000541395.5:c.1501+131G>T ENSP00000443112.1:n.1501+131G>T
ENST00000541924.5:c.*646G>T ENSP00000440361.1:n.*646G>T
ENST00000543255.1:n.676G>T
ENST00000543427.5:c.964+131G>T ENSP00000439721.2:n.964+131G>T
ENST00000544413.2:c.1501+131G>T ENSP00000438804.1:n.1501+131G>T
ENST00000544574.5:c.*395G>T ENSP00000438565.1:n.*395G>T
ENST00000560968.5:c.1318+131G>T
ENST00000615446.4:c.289+131G>T ENSP00000483994.1:n.289+131G>T
ENST00000617366.4:c.618+131G>T ENSP00000481967.1:n.618+131G>T
NM_000545.5:c.1501+131G>T , LRG_522t1:c.1501+131G>T NP_000536.5:n.1501+131G>T
NM_000545.6:c.1501+131G>T NP_000536.5:n.1501+131G>T
NM_001306179.1:c.1501+131G>T NP_001293108.1:n.1501+131G>T
XM_005253931.2:c.1501+131G>T XP_005253988.1:n.1501+131G>T
XM_024449168.1:c.1501+131G>T XP_024304936.1:n.1501+131G>T
NM_000545.8:c.1501+131G>T MANE Select NP_000536.6:n.1501+131G>T
NM_001306179.2:c.1501+131G>T NP_001293108.2:n.1501+131G>T
Search 100 bp 5'
Search 100 bp 3'