Canonical Allele Identifier: CA369865684

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150671919G>C (hg19) ; chr7:g.150974831G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974831G>C , CM000669.2:g.150974831G>C	GRCh38
NC_000007.13:g.150671919G>C , CM000669.1:g.150671919G>C	GRCh37
NC_000007.12:g.150302852G>C	NCBI36
NG_008916.1:g.8096C>G , LRG_288:g.8096C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.187C>G MANE Select	ENSP00000262186.5:p.Pro63Ala
ENST00000262186.9:c.187C>G	ENSP00000262186.5:p.Pro63Ala
ENST00000430723.4:c.10C>G	ENSP00000387657.4:p.Pro4Ala
ENST00000532957.5:n.410C>G
NM_000238.3:c.187C>G , LRG_288t1:c.187C>G	NP_000229.1:p.Pro63Ala
NM_172056.2:c.187C>G , LRG_288t2:c.187C>G	NP_742053.1:p.Pro63Ala
XM_011516186.1:c.187C>G	XP_011514488.1:p.Pro63Ala
XM_011516186.3:c.187C>G	XP_011514488.1:p.Pro63Ala
XM_017012196.1:c.10C>G	XP_016867685.1:p.Pro4Ala
NM_000238.4:c.187C>G MANE Select	NP_000229.1:p.Pro63Ala