Canonical Allele Identifier: CA038260

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 922153
• ClinVar RCV Id: RCV001430408 ; RCV001843113
• dbSNP Id: rs748606749
• ExAC: 7:150644007 G / A
• gnomAD v2: 7-150644007-G-A
• gnomAD v3: 7-150946919-G-A
• gnomAD v4: 7-150946919-G-A
• MyVariant Identifiers: chr7:g.150644007G>A (hg19) ; chr7:g.150946919G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946919G>A , CM000669.2:g.150946919G>A	GRCh38
NC_000007.13:g.150644007G>A , CM000669.1:g.150644007G>A	GRCh37
NC_000007.12:g.150274940G>A	NCBI36
NG_008916.1:g.36008C>T , LRG_288:g.36008C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4121C>T
ENST00000262186.10:c.3288C>T MANE Select	ENSP00000262186.5:p.Pro1096=
ENST00000330883.9:c.2268C>T	ENSP00000328531.4:p.Pro756=
ENST00000262186.9:c.3288C>T	ENSP00000262186.5:p.Pro1096=
ENST00000330883.8:c.2268C>T	ENSP00000328531.4:p.Pro756=
NM_000238.3:c.3288C>T , LRG_288t1:c.3288C>T	NP_000229.1:p.Pro1096=
NM_172057.2:c.2268C>T , LRG_288t3:c.2268C>T	NP_742054.1:p.Pro756=
XM_011516185.1:c.2988C>T	XP_011514487.1:p.Pro996=
XM_011516185.2:c.2988C>T	XP_011514487.1:p.Pro996=
XM_017012195.1:c.3138C>T	XP_016867684.1:p.Pro1046=
XM_017012196.1:c.3111C>T	XP_016867685.1:p.Pro1037=
NM_000238.4:c.3288C>T MANE Select	NP_000229.1:p.Pro1096=
NM_172057.3:c.2268C>T	NP_742054.1:p.Pro756=