Canonical Allele Identifier: CA369856268

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647363G>T (hg19) ; chr7:g.150950275G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950275G>T , CM000669.2:g.150950275G>T	GRCh38
NC_000007.13:g.150647363G>T , CM000669.1:g.150647363G>T	GRCh37
NC_000007.12:g.150278296G>T	NCBI36
NG_008916.1:g.32652C>A , LRG_288:g.32652C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1589C>A
ENST00000684241.1:n.3124C>A
ENST00000262186.10:c.2291C>A MANE Select	ENSP00000262186.5:p.Pro764Gln
ENST00000330883.9:c.1271C>A	ENSP00000328531.4:p.Pro424Gln
ENST00000262186.9:c.2291C>A	ENSP00000262186.5:p.Pro764Gln
ENST00000330883.8:c.1271C>A	ENSP00000328531.4:p.Pro424Gln
ENST00000430723.4:c.1943C>A	ENSP00000387657.4:p.Pro648Gln
ENST00000461280.1:n.1578C>A
ENST00000473610.5:n.1923C>A
ENST00000532957.5:n.2514C>A
NM_000238.3:c.2291C>A , LRG_288t1:c.2291C>A	NP_000229.1:p.Pro764Gln
NM_001204798.1:c.1271C>A	NP_001191727.1:p.Pro424Gln
NM_172056.2:c.2291C>A , LRG_288t2:c.2291C>A	NP_742053.1:p.Pro764Gln
NM_172057.2:c.1271C>A , LRG_288t3:c.1271C>A	NP_742054.1:p.Pro424Gln
XM_011516185.1:c.1991C>A	XP_011514487.1:p.Pro664Gln
XM_011516186.1:c.2291C>A	XP_011514488.1:p.Pro764Gln
XM_011516185.2:c.1991C>A	XP_011514487.1:p.Pro664Gln
XM_011516186.3:c.2291C>A	XP_011514488.1:p.Pro764Gln
XM_017012195.1:c.2141C>A	XP_016867684.1:p.Pro714Gln
XM_017012196.1:c.2114C>A	XP_016867685.1:p.Pro705Gln
NM_000238.4:c.2291C>A MANE Select	NP_000229.1:p.Pro764Gln
NM_001204798.2:c.1271C>A	NP_001191727.1:p.Pro424Gln
NM_172057.3:c.1271C>A	NP_742054.1:p.Pro424Gln