Canonical Allele Identifier: CA379775096

Gene: KCNJ11

Linked Data

• MyVariant Identifiers: chr11:g.17409390C>A (hg19) ; chr11:g.17387843C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387843C>A , CM000673.2:g.17387843C>A	GRCh38
NC_000011.9:g.17409390C>A , CM000673.1:g.17409390C>A	GRCh37
NC_000011.8:g.17365966C>A	NCBI36
NG_012446.1:g.5817G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000528992.2:c.21G>T	ENSP00000436479.2:p.Trp7Cys
ENST00000682350.1:c.-13G>T	ENSP00000508090.1:n.-13G>T
ENST00000682764.1:c.-13G>T	ENSP00000506780.1:n.-13G>T
ENST00000339994.5:c.249G>T MANE Select	ENSP00000345708.4:p.Trp83Cys
ENST00000339994.4:c.249G>T	ENSP00000345708.4:p.Trp83Cys
ENST00000526912.1:c.-13G>T	ENSP00000432729.1:n.-13G>T
ENST00000528731.1:c.-13G>T	ENSP00000434755.1:n.-13G>T
ENST00000528992.1:c.266G>T
NM_000525.3:c.249G>T	NP_000516.3:p.Trp83Cys
NM_001166290.1:c.-13G>T	NP_001159762.1:n.-13G>T
XM_006718226.2:c.-13G>T	XP_006718289.1:n.-13G>T
XR_930867.1:n.407G>T
XM_006718226.3:c.-13G>T	XP_006718289.1:n.-13G>T
XM_017017680.1:c.-13G>T	XP_016873169.1:n.-13G>T
NM_001166290.2:c.-13G>T	NP_001159762.1:n.-13G>T
NM_001377296.1:c.-13G>T	NP_001364225.1:n.-13G>T
NM_001377297.1:c.-13G>T	NP_001364226.1:n.-13G>T
NM_000525.4:c.249G>T MANE Select	NP_000516.3:p.Trp83Cys