Canonical Allele Identifier: CA835205259

Gene: KCNH2

Linked Data

• dbSNP Id: rs1286411077
• gnomAD v3: 7-150959801-G-C
• gnomAD v4: 7-150959801-G-C
• MyVariant Identifiers: chr7:g.150656889G>C (hg19) ; chr7:g.150959801G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959801G>C , CM000669.2:g.150959801G>C	GRCh38
NC_000007.13:g.150656889G>C , CM000669.1:g.150656889G>C	GRCh37
NC_000007.12:g.150287822G>C	NCBI36
NG_008916.1:g.23126C>G , LRG_288:g.23126C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1076C>G
ENST00000262186.10:c.308-65C>G MANE Select	ENSP00000262186.5:n.308-65C>G
ENST00000262186.9:c.308-65C>G	ENSP00000262186.5:n.308-65C>G
ENST00000430723.4:c.131-65C>G	ENSP00000387657.4:n.131-65C>G
ENST00000532957.5:n.531-65C>G
NM_000238.3:c.308-65C>G , LRG_288t1:c.308-65C>G	NP_000229.1:n.308-65C>G
NM_172056.2:c.308-65C>G , LRG_288t2:c.308-65C>G	NP_742053.1:n.308-65C>G
XM_011516185.1:c.8-65C>G	XP_011514487.1:n.8-65C>G
XM_011516186.1:c.308-65C>G	XP_011514488.1:n.308-65C>G
XM_011516185.2:c.8-65C>G	XP_011514487.1:n.8-65C>G
XM_011516186.3:c.308-65C>G	XP_011514488.1:n.308-65C>G
XM_017012195.1:c.158-65C>G	XP_016867684.1:n.158-65C>G
XM_017012196.1:c.131-65C>G	XP_016867685.1:n.131-65C>G
NM_000238.4:c.308-65C>G MANE Select	NP_000229.1:n.308-65C>G