Canonical Allele Identifier: CA458871560

Gene: KCNH2

Linked Data

• dbSNP Id: rs1244322669
• gnomAD v3: 7-150951650-T-G
• gnomAD v4: 7-150951650-T-G
• MyVariant Identifiers: chr7:g.150648738T>G (hg19) ; chr7:g.150951650T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951650T>G , CM000669.2:g.150951650T>G	GRCh38
NC_000007.13:g.150648738T>G , CM000669.1:g.150648738T>G	GRCh37
NC_000007.12:g.150279671T>G	NCBI36
NG_008916.1:g.31277A>C , LRG_288:g.31277A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1041A>C
ENST00000684241.1:n.2576A>C
ENST00000262186.10:c.1743A>C MANE Select	ENSP00000262186.5:p.Ser581=
ENST00000330883.9:c.723A>C	ENSP00000328531.4:p.Ser241=
ENST00000262186.9:c.1743A>C	ENSP00000262186.5:p.Ser581=
ENST00000330883.8:c.723A>C	ENSP00000328531.4:p.Ser241=
ENST00000430723.4:c.1395A>C	ENSP00000387657.4:p.Ser465=
ENST00000461280.1:n.1030A>C
ENST00000473610.5:n.1048A>C
ENST00000532957.5:n.1966A>C
NM_000238.3:c.1743A>C , LRG_288t1:c.1743A>C	NP_000229.1:p.Ser581=
NM_001204798.1:c.723A>C	NP_001191727.1:p.Ser241=
NM_172056.2:c.1743A>C , LRG_288t2:c.1743A>C	NP_742053.1:p.Ser581=
NM_172057.2:c.723A>C , LRG_288t3:c.723A>C	NP_742054.1:p.Ser241=
XM_011516185.1:c.1443A>C	XP_011514487.1:p.Ser481=
XM_011516186.1:c.1743A>C	XP_011514488.1:p.Ser581=
XM_011516185.2:c.1443A>C	XP_011514487.1:p.Ser481=
XM_011516186.3:c.1743A>C	XP_011514488.1:p.Ser581=
XM_017012195.1:c.1593A>C	XP_016867684.1:p.Ser531=
XM_017012196.1:c.1566A>C	XP_016867685.1:p.Ser522=
NM_000238.4:c.1743A>C MANE Select	NP_000229.1:p.Ser581=
NM_001204798.2:c.723A>C	NP_001191727.1:p.Ser241=
NM_172057.3:c.723A>C	NP_742054.1:p.Ser241=