Canonical Allele Identifier: CA369852615

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644458T>G (hg19) ; chr7:g.150947370T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947370T>G , CM000669.2:g.150947370T>G	GRCh38
NC_000007.13:g.150644458T>G , CM000669.1:g.150644458T>G	GRCh37
NC_000007.12:g.150275391T>G	NCBI36
NG_008916.1:g.35557A>C , LRG_288:g.35557A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3943A>C
ENST00000262186.10:c.3110A>C MANE Select	ENSP00000262186.5:p.Asp1037Ala
ENST00000330883.9:c.2090A>C	ENSP00000328531.4:p.Asp697Ala
ENST00000262186.9:c.3110A>C	ENSP00000262186.5:p.Asp1037Ala
ENST00000330883.8:c.2090A>C	ENSP00000328531.4:p.Asp697Ala
NM_000238.3:c.3110A>C , LRG_288t1:c.3110A>C	NP_000229.1:p.Asp1037Ala
NM_172057.2:c.2090A>C , LRG_288t3:c.2090A>C	NP_742054.1:p.Asp697Ala
XM_011516185.1:c.2810A>C	XP_011514487.1:p.Asp937Ala
XM_011516185.2:c.2810A>C	XP_011514487.1:p.Asp937Ala
XM_017012195.1:c.2960A>C	XP_016867684.1:p.Asp987Ala
XM_017012196.1:c.2933A>C	XP_016867685.1:p.Asp978Ala
NM_000238.4:c.3110A>C MANE Select	NP_000229.1:p.Asp1037Ala
NM_172057.3:c.2090A>C	NP_742054.1:p.Asp697Ala