Canonical Allele Identifier: CA369852991

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947499-A-G
• MyVariant Identifiers: chr7:g.150644587A>G (hg19) ; chr7:g.150947499A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947499A>G , CM000669.2:g.150947499A>G	GRCh38
NC_000007.13:g.150644587A>G , CM000669.1:g.150644587A>G	GRCh37
NC_000007.12:g.150275520A>G	NCBI36
NG_008916.1:g.35428T>C , LRG_288:g.35428T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3814T>C
ENST00000262186.10:c.2981T>C MANE Select	ENSP00000262186.5:p.Val994Ala
ENST00000330883.9:c.1961T>C	ENSP00000328531.4:p.Val654Ala
ENST00000262186.9:c.2981T>C	ENSP00000262186.5:p.Val994Ala
ENST00000330883.8:c.1961T>C	ENSP00000328531.4:p.Val654Ala
NM_000238.3:c.2981T>C , LRG_288t1:c.2981T>C	NP_000229.1:p.Val994Ala
NM_172057.2:c.1961T>C , LRG_288t3:c.1961T>C	NP_742054.1:p.Val654Ala
XM_011516185.1:c.2681T>C	XP_011514487.1:p.Val894Ala
XM_011516186.1:c.*61T>C	XP_011514488.1:n.*61T>C
XM_011516185.2:c.2681T>C	XP_011514487.1:p.Val894Ala
XM_011516186.3:c.*61T>C	XP_011514488.1:n.*61T>C
XM_017012195.1:c.2831T>C	XP_016867684.1:p.Val944Ala
XM_017012196.1:c.2804T>C	XP_016867685.1:p.Val935Ala
NM_000238.4:c.2981T>C MANE Select	NP_000229.1:p.Val994Ala
NM_172057.3:c.1961T>C	NP_742054.1:p.Val654Ala