Canonical Allele Identifier: CA036055

Gene: KCNH2

Linked Data

• dbSNP Id: rs752354851
• ExAC: 7:150644619 G / A
• gnomAD v2: 7-150644619-G-A
• gnomAD v4: 7-150947531-G-A
• MyVariant Identifiers: chr7:g.150644619G>A (hg19) ; chr7:g.150947531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947531G>A , CM000669.2:g.150947531G>A	GRCh38
NC_000007.13:g.150644619G>A , CM000669.1:g.150644619G>A	GRCh37
NC_000007.12:g.150275552G>A	NCBI36
NG_008916.1:g.35396C>T , LRG_288:g.35396C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3799-17C>T
ENST00000262186.10:c.2966-17C>T MANE Select	ENSP00000262186.5:n.2966-17C>T
ENST00000330883.9:c.1946-17C>T	ENSP00000328531.4:n.1946-17C>T
ENST00000262186.9:c.2966-17C>T	ENSP00000262186.5:n.2966-17C>T
ENST00000330883.8:c.1946-17C>T	ENSP00000328531.4:n.1946-17C>T
NM_000238.3:c.2966-17C>T , LRG_288t1:c.2966-17C>T	NP_000229.1:n.2966-17C>T
NM_172057.2:c.1946-17C>T , LRG_288t3:c.1946-17C>T	NP_742054.1:n.1946-17C>T
XM_011516185.1:c.2666-17C>T	XP_011514487.1:n.2666-17C>T
XM_011516186.1:c.*46-17C>T	XP_011514488.1:n.*46-17C>T
XM_011516185.2:c.2666-17C>T	XP_011514487.1:n.2666-17C>T
XM_011516186.3:c.*46-17C>T	XP_011514488.1:n.*46-17C>T
XM_017012195.1:c.2816-17C>T	XP_016867684.1:n.2816-17C>T
XM_017012196.1:c.2789-17C>T	XP_016867685.1:n.2789-17C>T
NM_000238.4:c.2966-17C>T MANE Select	NP_000229.1:n.2966-17C>T
NM_172057.3:c.1946-17C>T	NP_742054.1:n.1946-17C>T