Canonical Allele Identifier: CA249087

Gene: KCNC1

Linked Data

• ClinVar Variation Id: 218659
• ClinVar RCV Id: RCV000202888 ; RCV000690137 ; RCV001289075 ; RCV002311317
• dbSNP Id: rs146311746
• ExAC: 11:17794067 G / A
• gnomAD v2: 11-17794067-G-A
• gnomAD v3: 11-17772520-G-A
• gnomAD v4: 11-17772520-G-A
• MyVariant Identifiers: chr11:g.17794067G>A (hg19) ; chr11:g.17772520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17772520G>A , CM000673.2:g.17772520G>A	GRCh38
NC_000011.9:g.17794067G>A , CM000673.1:g.17794067G>A	GRCh37
NC_000011.8:g.17750643G>A	NCBI36
NG_041827.1:g.41573G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265969.8:c.1426G>A MANE Select	ENSP00000265969.7:p.Val476Ile
ENST00000379472.4:c.1426G>A	ENSP00000368785.3:p.Val476Ile
ENST00000638366.1:c.82G>A	ENSP00000491016.1:p.Val28Ile
ENST00000639325.2:c.1426G>A	ENSP00000492663.2:p.Val476Ile
ENST00000639495.1:c.330G>A
ENST00000640318.2:c.1426G>A	ENSP00000491189.2:p.Val476Ile
ENST00000640909.2:c.1426G>A	ENSP00000491644.2:p.Val476Ile
ENST00000675775.1:c.1426G>A	ENSP00000502716.1:p.Val476Ile
ENST00000265969.6:c.1426G>A	ENSP00000265969.6:p.Val476Ile
ENST00000379472.3:c.1426G>A	ENSP00000368785.3:p.Val476Ile
NM_001112741.1:c.1426G>A	NP_001106212.1:p.Val476Ile
NM_004976.4:c.1426G>A	NP_004967.1:p.Val476Ile
XM_011520078.1:c.1426G>A	XP_011518380.1:p.Val476Ile
XM_011520079.1:c.1426G>A	XP_011518381.1:p.Val476Ile
XM_011520080.1:c.1426G>A	XP_011518382.1:p.Val476Ile
XM_011520081.1:c.1426G>A	XP_011518383.1:p.Val476Ile
XR_930866.1:n.1519G>A
XR_930866.2:n.2619G>A
NM_001112741.2:c.1426G>A MANE Select	NP_001106212.1:p.Val476Ile