Canonical Allele Identifier: CA369852510

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644428C>G (hg19) ; chr7:g.150947340C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947340C>G , CM000669.2:g.150947340C>G	GRCh38
NC_000007.13:g.150644428C>G , CM000669.1:g.150644428C>G	GRCh37
NC_000007.12:g.150275361C>G	NCBI36
NG_008916.1:g.35587G>C , LRG_288:g.35587G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3973G>C
ENST00000262186.10:c.3140G>C MANE Select	ENSP00000262186.5:p.Arg1047Pro
ENST00000330883.9:c.2120G>C	ENSP00000328531.4:p.Arg707Pro
ENST00000262186.9:c.3140G>C	ENSP00000262186.5:p.Arg1047Pro
ENST00000330883.8:c.2120G>C	ENSP00000328531.4:p.Arg707Pro
NM_000238.3:c.3140G>C , LRG_288t1:c.3140G>C	NP_000229.1:p.Arg1047Pro
NM_172057.2:c.2120G>C , LRG_288t3:c.2120G>C	NP_742054.1:p.Arg707Pro
XM_011516185.1:c.2840G>C	XP_011514487.1:p.Arg947Pro
XM_011516185.2:c.2840G>C	XP_011514487.1:p.Arg947Pro
XM_017012195.1:c.2990G>C	XP_016867684.1:p.Arg997Pro
XM_017012196.1:c.2963G>C	XP_016867685.1:p.Arg988Pro
NM_000238.4:c.3140G>C MANE Select	NP_000229.1:p.Arg1047Pro
NM_172057.3:c.2120G>C	NP_742054.1:p.Arg707Pro