Canonical Allele Identifier: CA369858724

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 520444
• ClinVar RCV Id: RCV000622940
• dbSNP Id: rs1554425880
• MyVariant Identifiers: chr7:g.150648778C>G (hg19) ; chr7:g.150951690C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951690C>G , CM000669.2:g.150951690C>G	GRCh38
NC_000007.13:g.150648778C>G , CM000669.1:g.150648778C>G	GRCh37
NC_000007.12:g.150279711C>G	NCBI36
NG_008916.1:g.31237G>C , LRG_288:g.31237G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1001G>C
ENST00000684241.1:n.2536G>C
ENST00000262186.10:c.1703G>C MANE Select	ENSP00000262186.5:p.Trp568Ser
ENST00000330883.9:c.683G>C	ENSP00000328531.4:p.Trp228Ser
ENST00000262186.9:c.1703G>C	ENSP00000262186.5:p.Trp568Ser
ENST00000330883.8:c.683G>C	ENSP00000328531.4:p.Trp228Ser
ENST00000430723.4:c.1355G>C	ENSP00000387657.4:p.Trp452Ser
ENST00000461280.1:n.990G>C
ENST00000473610.5:n.1008G>C
ENST00000532957.5:n.1926G>C
NM_000238.3:c.1703G>C , LRG_288t1:c.1703G>C	NP_000229.1:p.Trp568Ser
NM_001204798.1:c.683G>C	NP_001191727.1:p.Trp228Ser
NM_172056.2:c.1703G>C , LRG_288t2:c.1703G>C	NP_742053.1:p.Trp568Ser
NM_172057.2:c.683G>C , LRG_288t3:c.683G>C	NP_742054.1:p.Trp228Ser
XM_011516185.1:c.1403G>C	XP_011514487.1:p.Trp468Ser
XM_011516186.1:c.1703G>C	XP_011514488.1:p.Trp568Ser
XM_011516185.2:c.1403G>C	XP_011514487.1:p.Trp468Ser
XM_011516186.3:c.1703G>C	XP_011514488.1:p.Trp568Ser
XM_017012195.1:c.1553G>C	XP_016867684.1:p.Trp518Ser
XM_017012196.1:c.1526G>C	XP_016867685.1:p.Trp509Ser
NM_000238.4:c.1703G>C MANE Select	NP_000229.1:p.Trp568Ser
NM_001204798.2:c.683G>C	NP_001191727.1:p.Trp228Ser
NM_172057.3:c.683G>C	NP_742054.1:p.Trp228Ser