Canonical Allele Identifier: CA369852640

Gene: KCNH2

Linked Data

• dbSNP Id: rs761933920
• gnomAD v4: 7-150947376-C-A
• MyVariant Identifiers: chr7:g.150644464C>A (hg19) ; chr7:g.150947376C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947376C>A , CM000669.2:g.150947376C>A	GRCh38
NC_000007.13:g.150644464C>A , CM000669.1:g.150644464C>A	GRCh37
NC_000007.12:g.150275397C>A	NCBI36
NG_008916.1:g.35551G>T , LRG_288:g.35551G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3937G>T
ENST00000262186.10:c.3104G>T MANE Select	ENSP00000262186.5:p.Arg1035Leu
ENST00000330883.9:c.2084G>T	ENSP00000328531.4:p.Arg695Leu
ENST00000262186.9:c.3104G>T	ENSP00000262186.5:p.Arg1035Leu
ENST00000330883.8:c.2084G>T	ENSP00000328531.4:p.Arg695Leu
NM_000238.3:c.3104G>T , LRG_288t1:c.3104G>T	NP_000229.1:p.Arg1035Leu
NM_172057.2:c.2084G>T , LRG_288t3:c.2084G>T	NP_742054.1:p.Arg695Leu
XM_011516185.1:c.2804G>T	XP_011514487.1:p.Arg935Leu
XM_011516185.2:c.2804G>T	XP_011514487.1:p.Arg935Leu
XM_017012195.1:c.2954G>T	XP_016867684.1:p.Arg985Leu
XM_017012196.1:c.2927G>T	XP_016867685.1:p.Arg976Leu
NM_000238.4:c.3104G>T MANE Select	NP_000229.1:p.Arg1035Leu
NM_172057.3:c.2084G>T	NP_742054.1:p.Arg695Leu