Canonical Allele Identifier: CA369862640

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655314G>C (hg19) ; chr7:g.150958226G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958226G>C , CM000669.2:g.150958226G>C	GRCh38
NC_000007.13:g.150655314G>C , CM000669.1:g.150655314G>C	GRCh37
NC_000007.12:g.150286247G>C	NCBI36
NG_008916.1:g.24701C>G , LRG_288:g.24701C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1582C>G
ENST00000262186.10:c.749C>G MANE Select	ENSP00000262186.5:p.Ser250Trp
ENST00000262186.9:c.749C>G	ENSP00000262186.5:p.Ser250Trp
ENST00000430723.4:c.401C>G	ENSP00000387657.4:p.Ser134Trp
ENST00000532957.5:n.972C>G
NM_000238.3:c.749C>G , LRG_288t1:c.749C>G	NP_000229.1:p.Ser250Trp
NM_172056.2:c.749C>G , LRG_288t2:c.749C>G	NP_742053.1:p.Ser250Trp
XM_011516185.1:c.449C>G	XP_011514487.1:p.Ser150Trp
XM_011516186.1:c.749C>G	XP_011514488.1:p.Ser250Trp
XM_011516185.2:c.449C>G	XP_011514487.1:p.Ser150Trp
XM_011516186.3:c.749C>G	XP_011514488.1:p.Ser250Trp
XM_017012195.1:c.599C>G	XP_016867684.1:p.Ser200Trp
XM_017012196.1:c.572C>G	XP_016867685.1:p.Ser191Trp
NM_000238.4:c.749C>G MANE Select	NP_000229.1:p.Ser250Trp