Canonical Allele Identifier: CA369852814

Gene: KCNH2

Linked Data

• dbSNP Id: rs950543448
• gnomAD v4: 7-150947431-C-G
• MyVariant Identifiers: chr7:g.150644519C>G (hg19) ; chr7:g.150947431C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947431C>G , CM000669.2:g.150947431C>G	GRCh38
NC_000007.13:g.150644519C>G , CM000669.1:g.150644519C>G	GRCh37
NC_000007.12:g.150275452C>G	NCBI36
NG_008916.1:g.35496G>C , LRG_288:g.35496G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3882G>C
ENST00000262186.10:c.3049G>C MANE Select	ENSP00000262186.5:p.Ala1017Pro
ENST00000330883.9:c.2029G>C	ENSP00000328531.4:p.Ala677Pro
ENST00000262186.9:c.3049G>C	ENSP00000262186.5:p.Ala1017Pro
ENST00000330883.8:c.2029G>C	ENSP00000328531.4:p.Ala677Pro
NM_000238.3:c.3049G>C , LRG_288t1:c.3049G>C	NP_000229.1:p.Ala1017Pro
NM_172057.2:c.2029G>C , LRG_288t3:c.2029G>C	NP_742054.1:p.Ala677Pro
XM_011516185.1:c.2749G>C	XP_011514487.1:p.Ala917Pro
XM_011516186.1:c.*129G>C	XP_011514488.1:n.*129G>C
XM_011516185.2:c.2749G>C	XP_011514487.1:p.Ala917Pro
XM_011516186.3:c.*129G>C	XP_011514488.1:n.*129G>C
XM_017012195.1:c.2899G>C	XP_016867684.1:p.Ala967Pro
XM_017012196.1:c.2872G>C	XP_016867685.1:p.Ala958Pro
NM_000238.4:c.3049G>C MANE Select	NP_000229.1:p.Ala1017Pro
NM_172057.3:c.2029G>C	NP_742054.1:p.Ala677Pro