Canonical Allele Identifier: CA10630105

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 361757
• ClinVar RCV Id: RCV000329099 ; RCV000358302
• dbSNP Id: rs2436124
• gnomAD v2: 8-133134288-G-A
• gnomAD v3: 8-132122041-G-A
• gnomAD v4: 8-132122041-G-A
• MyVariant Identifiers: chr8:g.133134288G>A (hg19) ; chr8:g.132122041G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132122041G>A , CM000670.2:g.132122041G>A	GRCh38
NC_000008.10:g.133134288G>A , CM000670.1:g.133134288G>A	GRCh37
NC_000008.9:g.133203470G>A	NCBI36
NG_008854.2:g.363717C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.*7221C>T MANE Select	ENSP00000373648.3:n.*7221C>T
ENST00000388996.8:c.*7221C>T	ENSP00000373648.3:n.*7221C>T
ENST00000621976.1:c.9477C>T	ENSP00000482510.1:n.9477C>T
NM_001204824.1:c.*7221C>T	NP_001191753.1:n.*7221C>T
NM_004519.3:c.*7221C>T	NP_004510.1:n.*7221C>T
XM_005250914.2:c.*7221C>T	XP_005250971.1:n.*7221C>T
XM_006716555.2:c.*7221C>T	XP_006716618.1:n.*7221C>T
XM_011517026.1:c.*7221C>T	XP_011515328.1:n.*7221C>T
XM_005250914.3:c.*7221C>T	XP_005250971.1:n.*7221C>T
XM_006716555.3:c.*7221C>T	XP_006716618.1:n.*7221C>T
XM_011517026.2:c.*7221C>T	XP_011515328.1:n.*7221C>T
XM_017013400.1:c.*7221C>T	XP_016868889.1:n.*7221C>T
NM_004519.4:c.*7221C>T MANE Select	NP_004510.1:n.*7221C>T
NM_001204824.2:c.*7221C>T	NP_001191753.1:n.*7221C>T