Canonical Allele Identifier: CA369866763

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150674985C>G (hg19) ; chr7:g.150977897C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977897C>G , CM000669.2:g.150977897C>G	GRCh38
NC_000007.13:g.150674985C>G , CM000669.1:g.150674985C>G	GRCh37
NC_000007.12:g.150305918C>G	NCBI36
NG_008916.1:g.5030G>C , LRG_288:g.5030G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.17G>C MANE Select	ENSP00000262186.5:p.Gly6Ala
ENST00000262186.9:c.17G>C	ENSP00000262186.5:p.Gly6Ala
ENST00000430723.4:c.-161G>C	ENSP00000387657.4:n.-161G>C
ENST00000532957.5:n.240G>C
NM_000238.3:c.17G>C , LRG_288t1:c.17G>C	NP_000229.1:p.Gly6Ala
NM_172056.2:c.17G>C , LRG_288t2:c.17G>C	NP_742053.1:p.Gly6Ala
XM_011516186.1:c.17G>C	XP_011514488.1:p.Gly6Ala
XM_011516186.3:c.17G>C	XP_011514488.1:p.Gly6Ala
NM_000238.4:c.17G>C MANE Select	NP_000229.1:p.Gly6Ala