Canonical Allele Identifier: CA458646821

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655526C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958438C>G , CM000669.2:g.150958438C>G	GRCh38
NC_000007.13:g.150655526C>G , CM000669.1:g.150655526C>G	GRCh37
NC_000007.12:g.150286459C>G	NCBI36
NG_008916.1:g.24489G>C , LRG_288:g.24489G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1370G>C
ENST00000262186.10:c.537G>C MANE Select	ENSP00000262186.5:p.Ser179=
ENST00000262186.9:c.537G>C	ENSP00000262186.5:p.Ser179=
ENST00000430723.4:c.235-46G>C	ENSP00000387657.4:n.235-46G>C
ENST00000532957.5:n.760G>C
NM_000238.3:c.537G>C , LRG_288t1:c.537G>C	NP_000229.1:p.Ser179=
NM_172056.2:c.537G>C , LRG_288t2:c.537G>C	NP_742053.1:p.Ser179=
XM_011516185.1:c.237G>C	XP_011514487.1:p.Ser79=
XM_011516186.1:c.537G>C	XP_011514488.1:p.Ser179=
XM_011516185.2:c.237G>C	XP_011514487.1:p.Ser79=
XM_011516186.3:c.537G>C	XP_011514488.1:p.Ser179=
XM_017012195.1:c.387G>C	XP_016867684.1:p.Ser129=
XM_017012196.1:c.360G>C	XP_016867685.1:p.Ser120=
NM_000238.4:c.537G>C MANE Select	NP_000229.1:p.Ser179=