Canonical Allele Identifier: CA369862649

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801446553
• gnomAD v4: 7-150958229-G-A
• MyVariant Identifiers: chr7:g.150655317G>A (hg19) ; chr7:g.150958229G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958229G>A , CM000669.2:g.150958229G>A	GRCh38
NC_000007.13:g.150655317G>A , CM000669.1:g.150655317G>A	GRCh37
NC_000007.12:g.150286250G>A	NCBI36
NG_008916.1:g.24698C>T , LRG_288:g.24698C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1579C>T
ENST00000262186.10:c.746C>T MANE Select	ENSP00000262186.5:p.Pro249Leu
ENST00000262186.9:c.746C>T	ENSP00000262186.5:p.Pro249Leu
ENST00000430723.4:c.398C>T	ENSP00000387657.4:p.Pro133Leu
ENST00000532957.5:n.969C>T
NM_000238.3:c.746C>T , LRG_288t1:c.746C>T	NP_000229.1:p.Pro249Leu
NM_172056.2:c.746C>T , LRG_288t2:c.746C>T	NP_742053.1:p.Pro249Leu
XM_011516185.1:c.446C>T	XP_011514487.1:p.Pro149Leu
XM_011516186.1:c.746C>T	XP_011514488.1:p.Pro249Leu
XM_011516185.2:c.446C>T	XP_011514487.1:p.Pro149Leu
XM_011516186.3:c.746C>T	XP_011514488.1:p.Pro249Leu
XM_017012195.1:c.596C>T	XP_016867684.1:p.Pro199Leu
XM_017012196.1:c.569C>T	XP_016867685.1:p.Pro190Leu
NM_000238.4:c.746C>T MANE Select	NP_000229.1:p.Pro249Leu