Canonical Allele Identifier: CA369852131

Gene: KCNH2

Linked Data

• dbSNP Id: rs1213817845
• gnomAD v2: 7-150644054-C-T
• MyVariant Identifiers: chr7:g.150644054C>T (hg19) ; chr7:g.150946966C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946966C>T , CM000669.2:g.150946966C>T	GRCh38
NC_000007.13:g.150644054C>T , CM000669.1:g.150644054C>T	GRCh37
NC_000007.12:g.150274987C>T	NCBI36
NG_008916.1:g.35961G>A , LRG_288:g.35961G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4074G>A
ENST00000262186.10:c.3241G>A MANE Select	ENSP00000262186.5:p.Val1081Met
ENST00000330883.9:c.2221G>A	ENSP00000328531.4:p.Val741Met
ENST00000262186.9:c.3241G>A	ENSP00000262186.5:p.Val1081Met
ENST00000330883.8:c.2221G>A	ENSP00000328531.4:p.Val741Met
NM_000238.3:c.3241G>A , LRG_288t1:c.3241G>A	NP_000229.1:p.Val1081Met
NM_172057.2:c.2221G>A , LRG_288t3:c.2221G>A	NP_742054.1:p.Val741Met
XM_011516185.1:c.2941G>A	XP_011514487.1:p.Val981Met
XM_011516185.2:c.2941G>A	XP_011514487.1:p.Val981Met
XM_017012195.1:c.3091G>A	XP_016867684.1:p.Val1031Met
XM_017012196.1:c.3064G>A	XP_016867685.1:p.Val1022Met
NM_000238.4:c.3241G>A MANE Select	NP_000229.1:p.Val1081Met
NM_172057.3:c.2221G>A	NP_742054.1:p.Val741Met