Canonical Allele Identifier: CA952559760
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs1876951379
gnomAD v3: 12-120993901-C-T
gnomAD v4: 12-120993901-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993901C>T , CM000674.2:g.120993901C>T GRCh38
NC_000012.11:g.121431704C>T , CM000674.1:g.121431704C>T GRCh37
NC_000012.10:g.119916087C>T NCBI36
NG_011731.2:g.20156C>T , LRG_522:g.20156C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.713+195C>T ENSP00000453965.2:n.713+195C>T
ENST00000257555.11:c.713+195C>T MANE Select ENSP00000257555.5:n.713+195C>T
ENST00000257555.10:c.713+195C>T ENSP00000257555.4:n.713+195C>T
ENST00000400024.6:c.713+195C>T ENSP00000476181.1:n.713+195C>T
ENST00000402929.5:n.848+195C>T
ENST00000535955.5:n.43-3590C>T
ENST00000538626.2:n.191-3590C>T
ENST00000538646.5:c.527-263C>T ENSP00000443964.1:n.527-263C>T
ENST00000540108.1:c.*153+195C>T ENSP00000445445.1:n.*153+195C>T
ENST00000541395.5:c.713+195C>T ENSP00000443112.1:n.713+195C>T
ENST00000541924.5:c.713+195C>T ENSP00000440361.1:n.713+195C>T
ENST00000543427.5:c.633+275C>T ENSP00000439721.2:n.633+275C>T
ENST00000544413.2:c.713+195C>T ENSP00000438804.1:n.713+195C>T
ENST00000544574.5:c.73-2716C>T ENSP00000438565.1:n.73-2716C>T
ENST00000560968.5:c.856+195C>T
ENST00000615446.4:c.-257-2361C>T ENSP00000483994.1:n.-257-2361C>T
ENST00000617366.4:c.586+322C>T ENSP00000481967.1:n.586+322C>T
NM_000545.5:c.713+195C>T , LRG_522t1:c.713+195C>T NP_000536.5:n.713+195C>T
NM_000545.6:c.713+195C>T NP_000536.5:n.713+195C>T
NM_001306179.1:c.713+195C>T NP_001293108.1:n.713+195C>T
XM_005253931.2:c.713+195C>T XP_005253988.1:n.713+195C>T
XM_024449168.1:c.713+195C>T XP_024304936.1:n.713+195C>T
NM_000545.8:c.713+195C>T MANE Select NP_000536.6:n.713+195C>T
NM_001306179.2:c.713+195C>T NP_001293108.2:n.713+195C>T
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