Canonical Allele Identifier: CA386964696
Gene: HNF1A HGNC NCBI

Linked Data

dbSNP Id: rs2135839501
MyVariant Identifiers: chr12:g.121431439T>A (hg19) chr12:g.120993636T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120993636T>A , CM000674.2:g.120993636T>A GRCh38
NC_000012.11:g.121431439T>A , CM000674.1:g.121431439T>A GRCh37
NC_000012.10:g.119915822T>A NCBI36
NG_011731.2:g.19891T>A , LRG_522:g.19891T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.643T>A ENSP00000453965.2:p.Phe215Ile
ENST00000257555.11:c.643T>A MANE Select ENSP00000257555.5:p.Phe215Ile
ENST00000257555.10:c.643T>A ENSP00000257555.4:p.Phe215Ile
ENST00000400024.6:c.643T>A ENSP00000476181.1:p.Phe215Ile
ENST00000402929.5:n.778T>A
ENST00000535955.5:n.43-3855T>A
ENST00000538626.2:n.191-3855T>A
ENST00000538646.5:c.527-528T>A ENSP00000443964.1:n.527-528T>A
ENST00000540108.1:c.*83T>A ENSP00000445445.1:n.*83T>A
ENST00000541395.5:c.643T>A ENSP00000443112.1:p.Phe215Ile
ENST00000541924.5:c.643T>A ENSP00000440361.1:p.Phe215Ile
ENST00000543427.5:c.633+10T>A ENSP00000439721.2:n.633+10T>A
ENST00000544413.2:c.643T>A ENSP00000438804.1:p.Phe215Ile
ENST00000544574.5:c.73-2981T>A ENSP00000438565.1:n.73-2981T>A
ENST00000560968.5:c.786T>A
ENST00000615446.4:c.-257-2626T>A ENSP00000483994.1:n.-257-2626T>A
ENST00000617366.4:c.586+57T>A ENSP00000481967.1:n.586+57T>A
NM_000545.5:c.643T>A , LRG_522t1:c.643T>A NP_000536.5:p.Phe215Ile
NM_000545.6:c.643T>A NP_000536.5:p.Phe215Ile
NM_001306179.1:c.643T>A NP_001293108.1:p.Phe215Ile
XM_005253931.2:c.643T>A XP_005253988.1:p.Phe215Ile
XM_024449168.1:c.643T>A XP_024304936.1:p.Phe215Ile
NM_000545.8:c.643T>A MANE Select NP_000536.6:p.Phe215Ile
NM_001306179.2:c.643T>A NP_001293108.2:p.Phe215Ile
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