Canonical Allele Identifier: CA379769101

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17386935-G-A
• MyVariant Identifiers: chr11:g.17408482G>A (hg19) ; chr11:g.17386935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386935G>A , CM000673.2:g.17386935G>A	GRCh38
NC_000011.9:g.17408482G>A , CM000673.1:g.17408482G>A	GRCh37
NC_000011.8:g.17365058G>A	NCBI36
NG_012446.1:g.6725C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.896C>T	ENSP00000508090.1:p.Pro299Leu
ENST00000682764.1:c.896C>T	ENSP00000506780.1:p.Pro299Leu
ENST00000339994.5:c.1157C>T MANE Select	ENSP00000345708.4:p.Pro386Leu
ENST00000339994.4:c.1157C>T	ENSP00000345708.4:p.Pro386Leu
ENST00000528731.1:c.896C>T	ENSP00000434755.1:p.Pro299Leu
NM_000525.3:c.1157C>T	NP_000516.3:p.Pro386Leu
NM_001166290.1:c.896C>T	NP_001159762.1:p.Pro299Leu
XM_006718226.2:c.896C>T	XP_006718289.1:p.Pro299Leu
XR_930867.1:n.1315C>T
XM_006718226.3:c.896C>T	XP_006718289.1:p.Pro299Leu
XM_017017680.1:c.896C>T	XP_016873169.1:p.Pro299Leu
NM_001166290.2:c.896C>T	NP_001159762.1:p.Pro299Leu
NM_001377296.1:c.896C>T	NP_001364225.1:p.Pro299Leu
NM_001377297.1:c.896C>T	NP_001364226.1:p.Pro299Leu
NM_000525.4:c.1157C>T MANE Select	NP_000516.3:p.Pro386Leu