Canonical Allele Identifier: CA369852647

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947379-G-A
• MyVariant Identifiers: chr7:g.150644467G>A (hg19) ; chr7:g.150947379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947379G>A , CM000669.2:g.150947379G>A	GRCh38
NC_000007.13:g.150644467G>A , CM000669.1:g.150644467G>A	GRCh37
NC_000007.12:g.150275400G>A	NCBI36
NG_008916.1:g.35548C>T , LRG_288:g.35548C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3934C>T
ENST00000262186.10:c.3101C>T MANE Select	ENSP00000262186.5:p.Pro1034Leu
ENST00000330883.9:c.2081C>T	ENSP00000328531.4:p.Pro694Leu
ENST00000262186.9:c.3101C>T	ENSP00000262186.5:p.Pro1034Leu
ENST00000330883.8:c.2081C>T	ENSP00000328531.4:p.Pro694Leu
NM_000238.3:c.3101C>T , LRG_288t1:c.3101C>T	NP_000229.1:p.Pro1034Leu
NM_172057.2:c.2081C>T , LRG_288t3:c.2081C>T	NP_742054.1:p.Pro694Leu
XM_011516185.1:c.2801C>T	XP_011514487.1:p.Pro934Leu
XM_011516185.2:c.2801C>T	XP_011514487.1:p.Pro934Leu
XM_017012195.1:c.2951C>T	XP_016867684.1:p.Pro984Leu
XM_017012196.1:c.2924C>T	XP_016867685.1:p.Pro975Leu
NM_000238.4:c.3101C>T MANE Select	NP_000229.1:p.Pro1034Leu
NM_172057.3:c.2081C>T	NP_742054.1:p.Pro694Leu