Canonical Allele Identifier: CA040831

Gene: KCNH2

Linked Data

• dbSNP Id: rs778388356
• ExAC: 7:150654635 A / G
• gnomAD v2: 7-150654635-A-G
• gnomAD v3: 7-150957547-A-G
• gnomAD v4: 7-150957547-A-G
• MyVariant Identifiers: chr7:g.150654635A>G (hg19) ; chr7:g.150957547A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957547A>G , CM000669.2:g.150957547A>G	GRCh38
NC_000007.13:g.150654635A>G , CM000669.1:g.150654635A>G	GRCh37
NC_000007.12:g.150285568A>G	NCBI36
NG_008916.1:g.25380T>C , LRG_288:g.25380T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1750-45T>C
ENST00000262186.10:c.917-45T>C MANE Select	ENSP00000262186.5:n.917-45T>C
ENST00000262186.9:c.917-45T>C	ENSP00000262186.5:n.917-45T>C
ENST00000430723.4:c.569-45T>C	ENSP00000387657.4:n.569-45T>C
ENST00000532957.5:n.1140-45T>C
NM_000238.3:c.917-45T>C , LRG_288t1:c.917-45T>C	NP_000229.1:n.917-45T>C
NM_172056.2:c.917-45T>C , LRG_288t2:c.917-45T>C	NP_742053.1:n.917-45T>C
XM_011516185.1:c.617-45T>C	XP_011514487.1:n.617-45T>C
XM_011516186.1:c.917-45T>C	XP_011514488.1:n.917-45T>C
XM_011516185.2:c.617-45T>C	XP_011514487.1:n.617-45T>C
XM_011516186.3:c.917-45T>C	XP_011514488.1:n.917-45T>C
XM_017012195.1:c.767-45T>C	XP_016867684.1:n.767-45T>C
XM_017012196.1:c.740-45T>C	XP_016867685.1:n.740-45T>C
NM_000238.4:c.917-45T>C MANE Select	NP_000229.1:n.917-45T>C