Canonical Allele Identifier: CA369863865

Gene: KCNH2

Linked Data

• dbSNP Id: rs1584867936
• MyVariant Identifiers: chr7:g.150656794A>C (hg19) ; chr7:g.150959706A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959706A>C , CM000669.2:g.150959706A>C	GRCh38
NC_000007.13:g.150656794A>C , CM000669.1:g.150656794A>C	GRCh37
NC_000007.12:g.150287727A>C	NCBI36
NG_008916.1:g.23221T>G , LRG_288:g.23221T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1171T>G
ENST00000262186.10:c.338T>G MANE Select	ENSP00000262186.5:p.Val113Gly
ENST00000262186.9:c.338T>G	ENSP00000262186.5:p.Val113Gly
ENST00000430723.4:c.161T>G	ENSP00000387657.4:p.Val54Gly
ENST00000532957.5:n.561T>G
NM_000238.3:c.338T>G , LRG_288t1:c.338T>G	NP_000229.1:p.Val113Gly
NM_172056.2:c.338T>G , LRG_288t2:c.338T>G	NP_742053.1:p.Val113Gly
XM_011516185.1:c.38T>G	XP_011514487.1:p.Val13Gly
XM_011516186.1:c.338T>G	XP_011514488.1:p.Val113Gly
XM_011516185.2:c.38T>G	XP_011514487.1:p.Val13Gly
XM_011516186.3:c.338T>G	XP_011514488.1:p.Val113Gly
XM_017012195.1:c.188T>G	XP_016867684.1:p.Val63Gly
XM_017012196.1:c.161T>G	XP_016867685.1:p.Val54Gly
NM_000238.4:c.338T>G MANE Select	NP_000229.1:p.Val113Gly