Canonical Allele Identifier: CA458871948

Gene: KCNH2

Linked Data

• dbSNP Id: rs1485149703
• gnomAD v4: 7-150958171-G-T
• MyVariant Identifiers: chr7:g.150655259G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958171G>T , CM000669.2:g.150958171G>T	GRCh38
NC_000007.13:g.150655259G>T , CM000669.1:g.150655259G>T	GRCh37
NC_000007.12:g.150286192G>T	NCBI36
NG_008916.1:g.24756C>A , LRG_288:g.24756C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1637C>A
ENST00000262186.10:c.804C>A MANE Select	ENSP00000262186.5:p.Ala268=
ENST00000262186.9:c.804C>A	ENSP00000262186.5:p.Ala268=
ENST00000430723.4:c.456C>A	ENSP00000387657.4:p.Ala152=
ENST00000532957.5:n.1027C>A
NM_000238.3:c.804C>A , LRG_288t1:c.804C>A	NP_000229.1:p.Ala268=
NM_172056.2:c.804C>A , LRG_288t2:c.804C>A	NP_742053.1:p.Ala268=
XM_011516185.1:c.504C>A	XP_011514487.1:p.Ala168=
XM_011516186.1:c.804C>A	XP_011514488.1:p.Ala268=
XM_011516185.2:c.504C>A	XP_011514487.1:p.Ala168=
XM_011516186.3:c.804C>A	XP_011514488.1:p.Ala268=
XM_017012195.1:c.654C>A	XP_016867684.1:p.Ala218=
XM_017012196.1:c.627C>A	XP_016867685.1:p.Ala209=
NM_000238.4:c.804C>A MANE Select	NP_000229.1:p.Ala268=