Canonical Allele Identifier: CA369858050

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3072164
• ClinVar RCV Id: RCV004012194
• dbSNP Id: rs1329260732
• MyVariant Identifiers: chr7:g.150648685C>G (hg19) ; chr7:g.150951597C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951597C>G , CM000669.2:g.150951597C>G	GRCh38
NC_000007.13:g.150648685C>G , CM000669.1:g.150648685C>G	GRCh37
NC_000007.12:g.150279618C>G	NCBI36
NG_008916.1:g.31330G>C , LRG_288:g.31330G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1094G>C
ENST00000684241.1:n.2629G>C
ENST00000262186.10:c.1796G>C MANE Select	ENSP00000262186.5:p.Ser599Thr
ENST00000330883.9:c.776G>C	ENSP00000328531.4:p.Ser259Thr
ENST00000262186.9:c.1796G>C	ENSP00000262186.5:p.Ser599Thr
ENST00000330883.8:c.776G>C	ENSP00000328531.4:p.Ser259Thr
ENST00000430723.4:c.1448G>C	ENSP00000387657.4:p.Ser483Thr
ENST00000461280.1:n.1083G>C
ENST00000473610.5:n.1101G>C
ENST00000532957.5:n.2019G>C
NM_000238.3:c.1796G>C , LRG_288t1:c.1796G>C	NP_000229.1:p.Ser599Thr
NM_001204798.1:c.776G>C	NP_001191727.1:p.Ser259Thr
NM_172056.2:c.1796G>C , LRG_288t2:c.1796G>C	NP_742053.1:p.Ser599Thr
NM_172057.2:c.776G>C , LRG_288t3:c.776G>C	NP_742054.1:p.Ser259Thr
XM_011516185.1:c.1496G>C	XP_011514487.1:p.Ser499Thr
XM_011516186.1:c.1796G>C	XP_011514488.1:p.Ser599Thr
XM_011516185.2:c.1496G>C	XP_011514487.1:p.Ser499Thr
XM_011516186.3:c.1796G>C	XP_011514488.1:p.Ser599Thr
XM_017012195.1:c.1646G>C	XP_016867684.1:p.Ser549Thr
XM_017012196.1:c.1619G>C	XP_016867685.1:p.Ser540Thr
NM_000238.4:c.1796G>C MANE Select	NP_000229.1:p.Ser599Thr
NM_001204798.2:c.776G>C	NP_001191727.1:p.Ser259Thr
NM_172057.3:c.776G>C	NP_742054.1:p.Ser259Thr