Canonical Allele Identifier: CA379770000

Gene: KCNJ11

Linked Data

• MyVariant Identifiers: chr11:g.17408735T>A (hg19) ; chr11:g.17387188T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387188T>A , CM000673.2:g.17387188T>A	GRCh38
NC_000011.9:g.17408735T>A , CM000673.1:g.17408735T>A	GRCh37
NC_000011.8:g.17365311T>A	NCBI36
NG_012446.1:g.6472A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.643A>T	ENSP00000508090.1:p.Thr215Ser
ENST00000682764.1:c.643A>T	ENSP00000506780.1:p.Thr215Ser
ENST00000339994.5:c.904A>T MANE Select	ENSP00000345708.4:p.Thr302Ser
ENST00000339994.4:c.904A>T	ENSP00000345708.4:p.Thr302Ser
ENST00000528731.1:c.643A>T	ENSP00000434755.1:p.Thr215Ser
NM_000525.3:c.904A>T	NP_000516.3:p.Thr302Ser
NM_001166290.1:c.643A>T	NP_001159762.1:p.Thr215Ser
XM_006718226.2:c.643A>T	XP_006718289.1:p.Thr215Ser
XR_930867.1:n.1062A>T
XM_006718226.3:c.643A>T	XP_006718289.1:p.Thr215Ser
XM_017017680.1:c.643A>T	XP_016873169.1:p.Thr215Ser
NM_001166290.2:c.643A>T	NP_001159762.1:p.Thr215Ser
NM_001377296.1:c.643A>T	NP_001364225.1:p.Thr215Ser
NM_001377297.1:c.643A>T	NP_001364226.1:p.Thr215Ser
NM_000525.4:c.904A>T MANE Select	NP_000516.3:p.Thr302Ser