Canonical Allele Identifier: CA458871946

Gene: KCNH2

Linked Data

• dbSNP Id: rs1485149703
• gnomAD v4: 7-150958171-G-A
• MyVariant Identifiers: chr7:g.150655259G>A (hg19) ; chr7:g.150958171G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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