Canonical Allele Identifier: CA386965806
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2574165
ClinVar RCV Id: RCV003318530
dbSNP Id: rs2135841160
MyVariant Identifiers: chr12:g.121431980C>G (hg19) chr12:g.120994177C>G (hg38)
ERepo: CA386965806/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120994177C>G , CM000674.2:g.120994177C>G GRCh38
NC_000012.11:g.121431980C>G , CM000674.1:g.121431980C>G GRCh37
NC_000012.10:g.119916363C>G NCBI36
NG_011731.2:g.20432C>G , LRG_522:g.20432C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.727C>G ENSP00000453965.2:p.Gln243Glu
ENST00000257555.11:c.727C>G MANE Select ENSP00000257555.5:p.Gln243Glu
ENST00000257555.10:c.727C>G ENSP00000257555.4:p.Gln243Glu
ENST00000400024.6:c.727C>G ENSP00000476181.1:p.Gln243Glu
ENST00000402929.5:n.862C>G
ENST00000535955.5:n.43-3314C>G
ENST00000538626.2:n.191-3314C>G
ENST00000538646.5:c.540C>G ENSP00000443964.1:p.Ser180=
ENST00000540108.1:c.*167C>G ENSP00000445445.1:n.*167C>G
ENST00000541395.5:c.727C>G ENSP00000443112.1:p.Gln243Glu
ENST00000541924.5:c.713+471C>G ENSP00000440361.1:n.713+471C>G
ENST00000543427.5:c.633+551C>G ENSP00000439721.2:n.633+551C>G
ENST00000544413.2:c.727C>G ENSP00000438804.1:p.Gln243Glu
ENST00000544574.5:c.73-2440C>G ENSP00000438565.1:n.73-2440C>G
ENST00000560968.5:c.870C>G
ENST00000615446.4:c.-257-2085C>G ENSP00000483994.1:n.-257-2085C>G
ENST00000617366.4:c.586+598C>G ENSP00000481967.1:n.586+598C>G
NM_000545.5:c.727C>G , LRG_522t1:c.727C>G NP_000536.5:p.Gln243Glu
NM_000545.6:c.727C>G NP_000536.5:p.Gln243Glu
NM_001306179.1:c.727C>G NP_001293108.1:p.Gln243Glu
XM_005253931.2:c.727C>G XP_005253988.1:p.Gln243Glu
XM_024449168.1:c.727C>G XP_024304936.1:p.Gln243Glu
NM_000545.8:c.727C>G MANE Select NP_000536.6:p.Gln243Glu
NM_001306179.2:c.727C>G NP_001293108.2:p.Gln243Glu
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