Canonical Allele Identifier: CA369852005

Gene: KCNH2

Linked Data

• dbSNP Id: rs1484012284
• gnomAD v2: 7-150644005-A-G
• gnomAD v4: 7-150946917-A-G
• MyVariant Identifiers: chr7:g.150644005A>G (hg19) ; chr7:g.150946917A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946917A>G , CM000669.2:g.150946917A>G	GRCh38
NC_000007.13:g.150644005A>G , CM000669.1:g.150644005A>G	GRCh37
NC_000007.12:g.150274938A>G	NCBI36
NG_008916.1:g.36010T>C , LRG_288:g.36010T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4123T>C
ENST00000262186.10:c.3290T>C MANE Select	ENSP00000262186.5:p.Val1097Ala
ENST00000330883.9:c.2270T>C	ENSP00000328531.4:p.Val757Ala
ENST00000262186.9:c.3290T>C	ENSP00000262186.5:p.Val1097Ala
ENST00000330883.8:c.2270T>C	ENSP00000328531.4:p.Val757Ala
NM_000238.3:c.3290T>C , LRG_288t1:c.3290T>C	NP_000229.1:p.Val1097Ala
NM_172057.2:c.2270T>C , LRG_288t3:c.2270T>C	NP_742054.1:p.Val757Ala
XM_011516185.1:c.2990T>C	XP_011514487.1:p.Val997Ala
XM_011516185.2:c.2990T>C	XP_011514487.1:p.Val997Ala
XM_017012195.1:c.3140T>C	XP_016867684.1:p.Val1047Ala
XM_017012196.1:c.3113T>C	XP_016867685.1:p.Val1038Ala
NM_000238.4:c.3290T>C MANE Select	NP_000229.1:p.Val1097Ala
NM_172057.3:c.2270T>C	NP_742054.1:p.Val757Ala