Canonical Allele Identifier: CA169081306

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 767198
• ClinVar RCV Id: RCV000945884 ; RCV002372647
• dbSNP Id: rs954537017
• gnomAD v2: 7-150655361-C-G
• gnomAD v3: 7-150958273-C-G
• gnomAD v4: 7-150958273-C-G
• MyVariant Identifiers: chr7:g.150655361C>G (hg19) ; chr7:g.150958273C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958273C>G , CM000669.2:g.150958273C>G	GRCh38
NC_000007.13:g.150655361C>G , CM000669.1:g.150655361C>G	GRCh37
NC_000007.12:g.150286294C>G	NCBI36
NG_008916.1:g.24654G>C , LRG_288:g.24654G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1535G>C
ENST00000262186.10:c.702G>C MANE Select	ENSP00000262186.5:p.Leu234=
ENST00000262186.9:c.702G>C	ENSP00000262186.5:p.Leu234=
ENST00000430723.4:c.354G>C	ENSP00000387657.4:p.Leu118=
ENST00000532957.5:n.925G>C
NM_000238.3:c.702G>C , LRG_288t1:c.702G>C	NP_000229.1:p.Leu234=
NM_172056.2:c.702G>C , LRG_288t2:c.702G>C	NP_742053.1:p.Leu234=
XM_011516185.1:c.402G>C	XP_011514487.1:p.Leu134=
XM_011516186.1:c.702G>C	XP_011514488.1:p.Leu234=
XM_011516185.2:c.402G>C	XP_011514487.1:p.Leu134=
XM_011516186.3:c.702G>C	XP_011514488.1:p.Leu234=
XM_017012195.1:c.552G>C	XP_016867684.1:p.Leu184=
XM_017012196.1:c.525G>C	XP_016867685.1:p.Leu175=
NM_000238.4:c.702G>C MANE Select	NP_000229.1:p.Leu234=