Canonical Allele Identifier: CA579075206

Gene: KCNH2

Linked Data

• dbSNP Id: rs1318047832
• gnomAD v2: 7-150644997-G-C
• gnomAD v4: 7-150947909-G-C
• MyVariant Identifiers: chr7:g.150644997G>C (hg19) ; chr7:g.150947909G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947909G>C , CM000669.2:g.150947909G>C	GRCh38
NC_000007.13:g.150644997G>C , CM000669.1:g.150644997G>C	GRCh37
NC_000007.12:g.150275930G>C	NCBI36
NG_008916.1:g.35018C>G , LRG_288:g.35018C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-31C>G
ENST00000262186.10:c.2693-31C>G MANE Select	ENSP00000262186.5:n.2693-31C>G
ENST00000330883.9:c.1673-31C>G	ENSP00000328531.4:n.1673-31C>G
ENST00000262186.9:c.2693-31C>G	ENSP00000262186.5:n.2693-31C>G
ENST00000330883.8:c.1673-31C>G	ENSP00000328531.4:n.1673-31C>G
NM_000238.3:c.2693-31C>G , LRG_288t1:c.2693-31C>G	NP_000229.1:n.2693-31C>G
NM_172057.2:c.1673-31C>G , LRG_288t3:c.1673-31C>G	NP_742054.1:n.1673-31C>G
XM_011516185.1:c.2393-31C>G	XP_011514487.1:n.2393-31C>G
XM_011516186.1:c.2693-218C>G	XP_011514488.1:n.2693-218C>G
XM_011516185.2:c.2393-31C>G	XP_011514487.1:n.2393-31C>G
XM_011516186.3:c.2693-218C>G	XP_011514488.1:n.2693-218C>G
XM_017012195.1:c.2543-31C>G	XP_016867684.1:n.2543-31C>G
XM_017012196.1:c.2516-31C>G	XP_016867685.1:n.2516-31C>G
NM_000238.4:c.2693-31C>G MANE Select	NP_000229.1:n.2693-31C>G
NM_172057.3:c.1673-31C>G	NP_742054.1:n.1673-31C>G