Canonical Allele Identifier: CA169082056

Gene: KCNH2

Linked Data

• dbSNP Id: rs990603426
• gnomAD v4: 7-150959530-G-C
• MyVariant Identifiers: chr7:g.150656618G>C (hg19) ; chr7:g.150959530G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959530G>C , CM000669.2:g.150959530G>C	GRCh38
NC_000007.13:g.150656618G>C , CM000669.1:g.150656618G>C	GRCh37
NC_000007.12:g.150287551G>C	NCBI36
NG_008916.1:g.23397C>G , LRG_288:g.23397C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1305+42C>G
ENST00000262186.10:c.472+42C>G MANE Select	ENSP00000262186.5:n.472+42C>G
ENST00000262186.9:c.472+42C>G	ENSP00000262186.5:n.472+42C>G
ENST00000430723.4:c.234+103C>G	ENSP00000387657.4:n.234+103C>G
ENST00000532957.5:n.695+42C>G
NM_000238.3:c.472+42C>G , LRG_288t1:c.472+42C>G	NP_000229.1:n.472+42C>G
NM_172056.2:c.472+42C>G , LRG_288t2:c.472+42C>G	NP_742053.1:n.472+42C>G
XM_011516185.1:c.172+42C>G	XP_011514487.1:n.172+42C>G
XM_011516186.1:c.472+42C>G	XP_011514488.1:n.472+42C>G
XM_011516185.2:c.172+42C>G	XP_011514487.1:n.172+42C>G
XM_011516186.3:c.472+42C>G	XP_011514488.1:n.472+42C>G
XM_017012195.1:c.322+42C>G	XP_016867684.1:n.322+42C>G
XM_017012196.1:c.295+42C>G	XP_016867685.1:n.295+42C>G
NM_000238.4:c.472+42C>G MANE Select	NP_000229.1:n.472+42C>G