Canonical Allele Identifier: CA369852676

Gene: KCNH2

Linked Data

• dbSNP Id: rs1381007695
• gnomAD v2: 7-150644477-C-A
• gnomAD v4: 7-150947389-C-A
• MyVariant Identifiers: chr7:g.150644477C>A (hg19) ; chr7:g.150947389C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947389C>A , CM000669.2:g.150947389C>A	GRCh38
NC_000007.13:g.150644477C>A , CM000669.1:g.150644477C>A	GRCh37
NC_000007.12:g.150275410C>A	NCBI36
NG_008916.1:g.35538G>T , LRG_288:g.35538G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3924G>T
ENST00000262186.10:c.3091G>T MANE Select	ENSP00000262186.5:p.Gly1031Cys
ENST00000330883.9:c.2071G>T	ENSP00000328531.4:p.Gly691Cys
ENST00000262186.9:c.3091G>T	ENSP00000262186.5:p.Gly1031Cys
ENST00000330883.8:c.2071G>T	ENSP00000328531.4:p.Gly691Cys
NM_000238.3:c.3091G>T , LRG_288t1:c.3091G>T	NP_000229.1:p.Gly1031Cys
NM_172057.2:c.2071G>T , LRG_288t3:c.2071G>T	NP_742054.1:p.Gly691Cys
XM_011516185.1:c.2791G>T	XP_011514487.1:p.Gly931Cys
XM_011516185.2:c.2791G>T	XP_011514487.1:p.Gly931Cys
XM_017012195.1:c.2941G>T	XP_016867684.1:p.Gly981Cys
XM_017012196.1:c.2914G>T	XP_016867685.1:p.Gly972Cys
NM_000238.4:c.3091G>T MANE Select	NP_000229.1:p.Gly1031Cys
NM_172057.3:c.2071G>T	NP_742054.1:p.Gly691Cys