Canonical Allele Identifier: CA386965903

Gene: HNF1A

Linked Data

• dbSNP Id: rs2135841315
• MyVariant Identifiers: chr12:g.121431998T>G (hg19) ; chr12:g.120994195T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994195T>G , CM000674.2:g.120994195T>G	GRCh38
NC_000012.11:g.121431998T>G , CM000674.1:g.121431998T>G	GRCh37
NC_000012.10:g.119916381T>G	NCBI36
NG_011731.2:g.20450T>G , LRG_522:g.20450T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.745T>G	ENSP00000453965.2:p.Ser249Ala
ENST00000257555.11:c.745T>G MANE Select	ENSP00000257555.5:p.Ser249Ala
ENST00000257555.10:c.745T>G	ENSP00000257555.4:p.Ser249Ala
ENST00000400024.6:c.745T>G	ENSP00000476181.1:p.Ser249Ala
ENST00000402929.5:n.880T>G
ENST00000535955.5:n.43-3296T>G
ENST00000538626.2:n.191-3296T>G
ENST00000538646.5:c.558T>G	ENSP00000443964.1:p.His186Gln
ENST00000540108.1:c.*185T>G	ENSP00000445445.1:n.*185T>G
ENST00000541395.5:c.745T>G	ENSP00000443112.1:p.Ser249Ala
ENST00000541924.5:c.713+489T>G	ENSP00000440361.1:n.713+489T>G
ENST00000543427.5:c.633+569T>G	ENSP00000439721.2:n.633+569T>G
ENST00000544413.2:c.745T>G	ENSP00000438804.1:p.Ser249Ala
ENST00000544574.5:c.73-2422T>G	ENSP00000438565.1:n.73-2422T>G
ENST00000560968.5:c.888T>G
ENST00000615446.4:c.-257-2067T>G	ENSP00000483994.1:n.-257-2067T>G
ENST00000617366.4:c.586+616T>G	ENSP00000481967.1:n.586+616T>G
NM_000545.5:c.745T>G , LRG_522t1:c.745T>G	NP_000536.5:p.Ser249Ala
NM_000545.6:c.745T>G	NP_000536.5:p.Ser249Ala
NM_001306179.1:c.745T>G	NP_001293108.1:p.Ser249Ala
XM_005253931.2:c.745T>G	XP_005253988.1:p.Ser249Ala
XM_024449168.1:c.745T>G	XP_024304936.1:p.Ser249Ala
NM_000545.8:c.745T>G MANE Select	NP_000536.6:p.Ser249Ala
NM_001306179.2:c.745T>G	NP_001293108.2:p.Ser249Ala