Canonical Allele Identifier: CA369852514

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947341-G-T
• MyVariant Identifiers: chr7:g.150644429G>T (hg19) ; chr7:g.150947341G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947341G>T , CM000669.2:g.150947341G>T	GRCh38
NC_000007.13:g.150644429G>T , CM000669.1:g.150644429G>T	GRCh37
NC_000007.12:g.150275362G>T	NCBI36
NG_008916.1:g.35586C>A , LRG_288:g.35586C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3972C>A
ENST00000262186.10:c.3139C>A MANE Select	ENSP00000262186.5:p.Arg1047Ser
ENST00000330883.9:c.2119C>A	ENSP00000328531.4:p.Arg707Ser
ENST00000262186.9:c.3139C>A	ENSP00000262186.5:p.Arg1047Ser
ENST00000330883.8:c.2119C>A	ENSP00000328531.4:p.Arg707Ser
NM_000238.3:c.3139C>A , LRG_288t1:c.3139C>A	NP_000229.1:p.Arg1047Ser
NM_172057.2:c.2119C>A , LRG_288t3:c.2119C>A	NP_742054.1:p.Arg707Ser
XM_011516185.1:c.2839C>A	XP_011514487.1:p.Arg947Ser
XM_011516185.2:c.2839C>A	XP_011514487.1:p.Arg947Ser
XM_017012195.1:c.2989C>A	XP_016867684.1:p.Arg997Ser
XM_017012196.1:c.2962C>A	XP_016867685.1:p.Arg988Ser
NM_000238.4:c.3139C>A MANE Select	NP_000229.1:p.Arg1047Ser
NM_172057.3:c.2119C>A	NP_742054.1:p.Arg707Ser