Canonical Allele Identifier: CA379769420

Gene: KCNJ11

Linked Data

• dbSNP Id: rs1430011635
• gnomAD v2: 11-17408625-T-A
• gnomAD v4: 11-17387078-T-A
• MyVariant Identifiers: chr11:g.17408625T>A (hg19) ; chr11:g.17387078T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387078T>A , CM000673.2:g.17387078T>A	GRCh38
NC_000011.9:g.17408625T>A , CM000673.1:g.17408625T>A	GRCh37
NC_000011.8:g.17365201T>A	NCBI36
NG_012446.1:g.6582A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.753A>T	ENSP00000508090.1:p.Lys251Asn
ENST00000682764.1:c.753A>T	ENSP00000506780.1:p.Lys251Asn
ENST00000339994.5:c.1014A>T MANE Select	ENSP00000345708.4:p.Lys338Asn
ENST00000339994.4:c.1014A>T	ENSP00000345708.4:p.Lys338Asn
ENST00000528731.1:c.753A>T	ENSP00000434755.1:p.Lys251Asn
NM_000525.3:c.1014A>T	NP_000516.3:p.Lys338Asn
NM_001166290.1:c.753A>T	NP_001159762.1:p.Lys251Asn
XM_006718226.2:c.753A>T	XP_006718289.1:p.Lys251Asn
XR_930867.1:n.1172A>T
XM_006718226.3:c.753A>T	XP_006718289.1:p.Lys251Asn
XM_017017680.1:c.753A>T	XP_016873169.1:p.Lys251Asn
NM_001166290.2:c.753A>T	NP_001159762.1:p.Lys251Asn
NM_001377296.1:c.753A>T	NP_001364225.1:p.Lys251Asn
NM_001377297.1:c.753A>T	NP_001364226.1:p.Lys251Asn
NM_000525.4:c.1014A>T MANE Select	NP_000516.3:p.Lys338Asn