Canonical Allele Identifier: CA369857779

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150951114-A-G
• MyVariant Identifiers: chr7:g.150648202A>G (hg19) ; chr7:g.150951114A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951114A>G , CM000669.2:g.150951114A>G	GRCh38
NC_000007.13:g.150648202A>G , CM000669.1:g.150648202A>G	GRCh37
NC_000007.12:g.150279135A>G	NCBI36
NG_008916.1:g.31813T>C , LRG_288:g.31813T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1250T>C
ENST00000683359.1:n.76T>C
ENST00000684241.1:n.2785T>C
ENST00000262186.10:c.1952T>C MANE Select	ENSP00000262186.5:p.Met651Thr
ENST00000330883.9:c.932T>C	ENSP00000328531.4:p.Met311Thr
ENST00000262186.9:c.1952T>C	ENSP00000262186.5:p.Met651Thr
ENST00000330883.8:c.932T>C	ENSP00000328531.4:p.Met311Thr
ENST00000430723.4:c.1604T>C	ENSP00000387657.4:p.Met535Thr
ENST00000461280.1:n.1239T>C
ENST00000473610.5:n.1584T>C
ENST00000532957.5:n.2175T>C
NM_000238.3:c.1952T>C , LRG_288t1:c.1952T>C	NP_000229.1:p.Met651Thr
NM_001204798.1:c.932T>C	NP_001191727.1:p.Met311Thr
NM_172056.2:c.1952T>C , LRG_288t2:c.1952T>C	NP_742053.1:p.Met651Thr
NM_172057.2:c.932T>C , LRG_288t3:c.932T>C	NP_742054.1:p.Met311Thr
XM_011516185.1:c.1652T>C	XP_011514487.1:p.Met551Thr
XM_011516186.1:c.1952T>C	XP_011514488.1:p.Met651Thr
XM_011516185.2:c.1652T>C	XP_011514487.1:p.Met551Thr
XM_011516186.3:c.1952T>C	XP_011514488.1:p.Met651Thr
XM_017012195.1:c.1802T>C	XP_016867684.1:p.Met601Thr
XM_017012196.1:c.1775T>C	XP_016867685.1:p.Met592Thr
NM_000238.4:c.1952T>C MANE Select	NP_000229.1:p.Met651Thr
NM_001204798.2:c.932T>C	NP_001191727.1:p.Met311Thr
NM_172057.3:c.932T>C	NP_742054.1:p.Met311Thr