Canonical Allele Identifier: CA369853113

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947642-A-G
• MyVariant Identifiers: chr7:g.150644730A>G (hg19) ; chr7:g.150947642A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947642A>G , CM000669.2:g.150947642A>G	GRCh38
NC_000007.13:g.150644730A>G , CM000669.1:g.150644730A>G	GRCh37
NC_000007.12:g.150275663A>G	NCBI36
NG_008916.1:g.35285T>C , LRG_288:g.35285T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3762T>C
ENST00000262186.10:c.2929T>C MANE Select	ENSP00000262186.5:p.Cys977Arg
ENST00000330883.9:c.1909T>C	ENSP00000328531.4:p.Cys637Arg
ENST00000262186.9:c.2929T>C	ENSP00000262186.5:p.Cys977Arg
ENST00000330883.8:c.1909T>C	ENSP00000328531.4:p.Cys637Arg
NM_000238.3:c.2929T>C , LRG_288t1:c.2929T>C	NP_000229.1:p.Cys977Arg
NM_172057.2:c.1909T>C , LRG_288t3:c.1909T>C	NP_742054.1:p.Cys637Arg
XM_011516185.1:c.2629T>C	XP_011514487.1:p.Cys877Arg
XM_011516186.1:c.*9T>C	XP_011514488.1:n.*9T>C
XM_011516185.2:c.2629T>C	XP_011514487.1:p.Cys877Arg
XM_011516186.3:c.*9T>C	XP_011514488.1:n.*9T>C
XM_017012195.1:c.2779T>C	XP_016867684.1:p.Cys927Arg
XM_017012196.1:c.2752T>C	XP_016867685.1:p.Cys918Arg
NM_000238.4:c.2929T>C MANE Select	NP_000229.1:p.Cys977Arg
NM_172057.3:c.1909T>C	NP_742054.1:p.Cys637Arg