Canonical Allele Identifier: CA169071997

Gene: KCNH2

Linked Data

• dbSNP Id: rs41313761
• gnomAD v2: 7-150644509-G-A
• MyVariant Identifiers: chr7:g.150644509G>A (hg19) ; chr7:g.150947421G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947421G>A , CM000669.2:g.150947421G>A	GRCh38
NC_000007.13:g.150644509G>A , CM000669.1:g.150644509G>A	GRCh37
NC_000007.12:g.150275442G>A	NCBI36
NG_008916.1:g.35506C>T , LRG_288:g.35506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3892C>T
ENST00000262186.10:c.3059C>T MANE Select	ENSP00000262186.5:p.Pro1020Leu
ENST00000330883.9:c.2039C>T	ENSP00000328531.4:p.Pro680Leu
ENST00000262186.9:c.3059C>T	ENSP00000262186.5:p.Pro1020Leu
ENST00000330883.8:c.2039C>T	ENSP00000328531.4:p.Pro680Leu
NM_000238.3:c.3059C>T , LRG_288t1:c.3059C>T	NP_000229.1:p.Pro1020Leu
NM_172057.2:c.2039C>T , LRG_288t3:c.2039C>T	NP_742054.1:p.Pro680Leu
XM_011516185.1:c.2759C>T	XP_011514487.1:p.Pro920Leu
XM_011516185.2:c.2759C>T	XP_011514487.1:p.Pro920Leu
XM_017012195.1:c.2909C>T	XP_016867684.1:p.Pro970Leu
XM_017012196.1:c.2882C>T	XP_016867685.1:p.Pro961Leu
NM_000238.4:c.3059C>T MANE Select	NP_000229.1:p.Pro1020Leu
NM_172057.3:c.2039C>T	NP_742054.1:p.Pro680Leu