Canonical Allele Identifier: CA16618599

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 424010
• ClinVar RCV Id: RCV000478698
• dbSNP Id: rs1064796743
• MyVariant Identifiers: chr8:g.133146553A>G (hg19) ; chr8:g.132134306A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132134306A>G , CM000670.2:g.132134306A>G	GRCh38
NC_000008.10:g.133146553A>G , CM000670.1:g.133146553A>G	GRCh37
NC_000008.9:g.133215735A>G	NCBI36
NG_008854.2:g.351452T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.1783T>C MANE Select	ENSP00000373648.3:p.Ser595Pro
ENST00000521134.6:c.1423T>C	ENSP00000429799.1:p.Ser475Pro
ENST00000638588.1:c.1456T>C	ENSP00000491940.1:p.Ser486Pro
ENST00000639496.1:c.*407T>C	ENSP00000491165.1:n.*407T>C
ENST00000388996.8:c.1783T>C	ENSP00000373648.3:p.Ser595Pro
ENST00000519445.5:c.1763+20T>C	ENSP00000428790.1:n.1763+20T>C
ENST00000519589.1:n.2511T>C
ENST00000521134.5:c.1423T>C	ENSP00000429799.1:p.Ser475Pro
ENST00000621976.1:c.1420T>C	ENSP00000482510.1:p.Ser474Pro
NM_001204824.1:c.1423T>C	NP_001191753.1:p.Ser475Pro
NM_004519.3:c.1783T>C	NP_004510.1:p.Ser595Pro
XM_005250914.2:c.538T>C	XP_005250971.1:p.Ser180Pro
XM_006716555.2:c.1075T>C	XP_006716618.1:p.Ser359Pro
XM_011517026.1:c.1423T>C	XP_011515328.1:p.Ser475Pro
XM_005250914.3:c.538T>C	XP_005250971.1:p.Ser180Pro
XM_006716555.3:c.1075T>C	XP_006716618.1:p.Ser359Pro
XM_011517026.2:c.1423T>C	XP_011515328.1:p.Ser475Pro
XM_017013400.1:c.1561T>C	XP_016868889.1:p.Ser521Pro
NM_004519.4:c.1783T>C MANE Select	NP_004510.1:p.Ser595Pro
NM_001204824.2:c.1423T>C	NP_001191753.1:p.Ser475Pro