Canonical Allele Identifier: CA035057

Gene: KCNH2

Linked Data

• dbSNP Id: rs759492534
• ExAC: 7:150644812 G / C
• gnomAD v2: 7-150644812-G-C
• gnomAD v4: 7-150947724-G-C
• MyVariant Identifiers: chr7:g.150644812G>C (hg19) ; chr7:g.150947724G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947724G>C , CM000669.2:g.150947724G>C	GRCh38
NC_000007.13:g.150644812G>C , CM000669.1:g.150644812G>C	GRCh37
NC_000007.12:g.150275745G>C	NCBI36
NG_008916.1:g.35203C>G , LRG_288:g.35203C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3680C>G
ENST00000262186.10:c.2847C>G MANE Select	ENSP00000262186.5:p.Ser949Arg
ENST00000330883.9:c.1827C>G	ENSP00000328531.4:p.Ser609Arg
ENST00000262186.9:c.2847C>G	ENSP00000262186.5:p.Ser949Arg
ENST00000330883.8:c.1827C>G	ENSP00000328531.4:p.Ser609Arg
NM_000238.3:c.2847C>G , LRG_288t1:c.2847C>G	NP_000229.1:p.Ser949Arg
NM_172057.2:c.1827C>G , LRG_288t3:c.1827C>G	NP_742054.1:p.Ser609Arg
XM_011516185.1:c.2547C>G	XP_011514487.1:p.Ser849Arg
XM_011516186.1:c.2693-33C>G	XP_011514488.1:n.2693-33C>G
XM_011516185.2:c.2547C>G	XP_011514487.1:p.Ser849Arg
XM_011516186.3:c.2693-33C>G	XP_011514488.1:n.2693-33C>G
XM_017012195.1:c.2697C>G	XP_016867684.1:p.Ser899Arg
XM_017012196.1:c.2670C>G	XP_016867685.1:p.Ser890Arg
NM_000238.4:c.2847C>G MANE Select	NP_000229.1:p.Ser949Arg
NM_172057.3:c.1827C>G	NP_742054.1:p.Ser609Arg