Canonical Allele Identifier: CA039718

Gene: KCNH2

Linked Data

• dbSNP Id: rs778550404
• ExAC: 7:150656654 A / G
• gnomAD v2: 7-150656654-A-G
• MyVariant Identifiers: chr7:g.150656654A>G (hg19) ; chr7:g.150959566A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959566A>G , CM000669.2:g.150959566A>G	GRCh38
NC_000007.13:g.150656654A>G , CM000669.1:g.150656654A>G	GRCh37
NC_000007.12:g.150287587A>G	NCBI36
NG_008916.1:g.23361T>C , LRG_288:g.23361T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1305+6T>C
ENST00000262186.10:c.472+6T>C MANE Select	ENSP00000262186.5:n.472+6T>C
ENST00000262186.9:c.472+6T>C	ENSP00000262186.5:n.472+6T>C
ENST00000430723.4:c.234+67T>C	ENSP00000387657.4:n.234+67T>C
ENST00000532957.5:n.695+6T>C
NM_000238.3:c.472+6T>C , LRG_288t1:c.472+6T>C	NP_000229.1:n.472+6T>C
NM_172056.2:c.472+6T>C , LRG_288t2:c.472+6T>C	NP_742053.1:n.472+6T>C
XM_011516185.1:c.172+6T>C	XP_011514487.1:n.172+6T>C
XM_011516186.1:c.472+6T>C	XP_011514488.1:n.472+6T>C
XM_011516185.2:c.172+6T>C	XP_011514487.1:n.172+6T>C
XM_011516186.3:c.472+6T>C	XP_011514488.1:n.472+6T>C
XM_017012195.1:c.322+6T>C	XP_016867684.1:n.322+6T>C
XM_017012196.1:c.295+6T>C	XP_016867685.1:n.295+6T>C
NM_000238.4:c.472+6T>C MANE Select	NP_000229.1:n.472+6T>C