Canonical Allele Identifier: CA369852023

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644011A>T (hg19) ; chr7:g.150946923A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946923A>T , CM000669.2:g.150946923A>T	GRCh38
NC_000007.13:g.150644011A>T , CM000669.1:g.150644011A>T	GRCh37
NC_000007.12:g.150274944A>T	NCBI36
NG_008916.1:g.36004T>A , LRG_288:g.36004T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4117T>A
ENST00000262186.10:c.3284T>A MANE Select	ENSP00000262186.5:p.Leu1095Ter
ENST00000330883.9:c.2264T>A	ENSP00000328531.4:p.Leu755Ter
ENST00000262186.9:c.3284T>A	ENSP00000262186.5:p.Leu1095Ter
ENST00000330883.8:c.2264T>A	ENSP00000328531.4:p.Leu755Ter
NM_000238.3:c.3284T>A , LRG_288t1:c.3284T>A	NP_000229.1:p.Leu1095Ter
NM_172057.2:c.2264T>A , LRG_288t3:c.2264T>A	NP_742054.1:p.Leu755Ter
XM_011516185.1:c.2984T>A	XP_011514487.1:p.Leu995Ter
XM_011516185.2:c.2984T>A	XP_011514487.1:p.Leu995Ter
XM_017012195.1:c.3134T>A	XP_016867684.1:p.Leu1045Ter
XM_017012196.1:c.3107T>A	XP_016867685.1:p.Leu1036Ter
NM_000238.4:c.3284T>A MANE Select	NP_000229.1:p.Leu1095Ter
NM_172057.3:c.2264T>A	NP_742054.1:p.Leu755Ter