Canonical Allele Identifier: CA369853281

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947726-T-G
• MyVariant Identifiers: chr7:g.150644814T>G (hg19) ; chr7:g.150947726T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947726T>G , CM000669.2:g.150947726T>G	GRCh38
NC_000007.13:g.150644814T>G , CM000669.1:g.150644814T>G	GRCh37
NC_000007.12:g.150275747T>G	NCBI36
NG_008916.1:g.35201A>C , LRG_288:g.35201A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3678A>C
ENST00000262186.10:c.2845A>C MANE Select	ENSP00000262186.5:p.Ser949Arg
ENST00000330883.9:c.1825A>C	ENSP00000328531.4:p.Ser609Arg
ENST00000262186.9:c.2845A>C	ENSP00000262186.5:p.Ser949Arg
ENST00000330883.8:c.1825A>C	ENSP00000328531.4:p.Ser609Arg
NM_000238.3:c.2845A>C , LRG_288t1:c.2845A>C	NP_000229.1:p.Ser949Arg
NM_172057.2:c.1825A>C , LRG_288t3:c.1825A>C	NP_742054.1:p.Ser609Arg
XM_011516185.1:c.2545A>C	XP_011514487.1:p.Ser849Arg
XM_011516186.1:c.2693-35A>C	XP_011514488.1:n.2693-35A>C
XM_011516185.2:c.2545A>C	XP_011514487.1:p.Ser849Arg
XM_011516186.3:c.2693-35A>C	XP_011514488.1:n.2693-35A>C
XM_017012195.1:c.2695A>C	XP_016867684.1:p.Ser899Arg
XM_017012196.1:c.2668A>C	XP_016867685.1:p.Ser890Arg
NM_000238.4:c.2845A>C MANE Select	NP_000229.1:p.Ser949Arg
NM_172057.3:c.1825A>C	NP_742054.1:p.Ser609Arg