Canonical Allele Identifier: CA386952188
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1342950
ClinVar RCV Id: RCV001843400
dbSNP Id: rs2135819349
MyVariant Identifiers: chr12:g.121416587A>T (hg19) chr12:g.120978784A>T (hg38)
ERepo: CA386952188/MONDO:0015967/017
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120978784A>T , CM000674.2:g.120978784A>T GRCh38
NC_000012.11:g.121416587A>T , CM000674.1:g.121416587A>T GRCh37
NC_000012.10:g.119900970A>T NCBI36
NG_011731.2:g.5039A>T , LRG_522:g.5039A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000560968.6:c.16A>T ENSP00000453965.2:p.Ser6Cys
ENST00000257555.11:c.16A>T MANE Select ENSP00000257555.5:p.Ser6Cys
ENST00000257555.10:c.16A>T ENSP00000257555.4:p.Ser6Cys
ENST00000400024.6:c.16A>T ENSP00000476181.1:p.Ser6Cys
ENST00000402929.5:n.151A>T
ENST00000535955.5:n.42+92A>T
ENST00000538626.2:n.134A>T
ENST00000538646.5:c.16A>T ENSP00000443964.1:p.Ser6Cys
ENST00000540108.1:c.16A>T ENSP00000445445.1:p.Ser6Cys
ENST00000541395.5:c.16A>T ENSP00000443112.1:p.Ser6Cys
ENST00000541924.5:c.16A>T ENSP00000440361.1:p.Ser6Cys
ENST00000543427.5:c.16A>T ENSP00000439721.2:p.Ser6Cys
ENST00000544413.2:c.16A>T ENSP00000438804.1:p.Ser6Cys
ENST00000544574.5:c.16A>T ENSP00000438565.1:p.Ser6Cys
ENST00000560968.5:c.159A>T
ENST00000615446.4:c.-258+73A>T ENSP00000483994.1:n.-258+73A>T
ENST00000617366.4:c.16A>T ENSP00000481967.1:p.Ser6Cys
NM_000545.5:c.16A>T , LRG_522t1:c.16A>T NP_000536.5:p.Ser6Cys
NM_000545.6:c.16A>T NP_000536.5:p.Ser6Cys
NM_001306179.1:c.16A>T NP_001293108.1:p.Ser6Cys
XM_005253931.2:c.16A>T XP_005253988.1:p.Ser6Cys
XM_024449168.1:c.16A>T XP_024304936.1:p.Ser6Cys
NM_000545.8:c.16A>T MANE Select NP_000536.6:p.Ser6Cys
NM_001306179.2:c.16A>T NP_001293108.2:p.Ser6Cys
Search 100 bp 5'
Search 100 bp 3'