Canonical Allele Identifier: CA10637945

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 303724
• ClinVar RCV Id: RCV000267407 ; RCV000322553 ; RCV000377046 ; RCV002227136
• dbSNP Id: rs886048038
• gnomAD v2: 11-17408155-G-A
• gnomAD v3: 11-17386608-G-A
• gnomAD v4: 11-17386608-G-A
• MyVariant Identifiers: chr11:g.17408155G>A (hg19) ; chr11:g.17386608G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386608G>A , CM000673.2:g.17386608G>A	GRCh38
NC_000011.9:g.17408155G>A , CM000673.1:g.17408155G>A	GRCh37
NC_000011.8:g.17364731G>A	NCBI36
NG_012446.1:g.7052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.*311C>T	ENSP00000508090.1:n.*311C>T
ENST00000682764.1:c.*50+261C>T	ENSP00000506780.1:n.*50+261C>T
ENST00000339994.5:c.*311C>T MANE Select	ENSP00000345708.4:n.*311C>T
ENST00000339994.4:c.*311C>T	ENSP00000345708.4:n.*311C>T
ENST00000526747.1:n.143C>T
ENST00000528731.1:c.*311C>T	ENSP00000434755.1:n.*311C>T
NM_000525.3:c.*311C>T	NP_000516.3:n.*311C>T
NM_001166290.1:c.*311C>T	NP_001159762.1:n.*311C>T
XM_006718226.2:c.*311C>T	XP_006718289.1:n.*311C>T
XR_930867.1:n.1381+261C>T
XM_006718226.3:c.*311C>T	XP_006718289.1:n.*311C>T
XM_017017680.1:c.*311C>T	XP_016873169.1:n.*311C>T
NM_001166290.2:c.*311C>T	NP_001159762.1:n.*311C>T
NM_001377296.1:c.*311C>T	NP_001364225.1:n.*311C>T
NM_001377297.1:c.*311C>T	NP_001364226.1:n.*311C>T
NM_000525.4:c.*311C>T MANE Select	NP_000516.3:n.*311C>T