Canonical Allele Identifier: CA458871716

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974718-C-G
• MyVariant Identifiers: chr7:g.150671806C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974718C>G , CM000669.2:g.150974718C>G	GRCh38
NC_000007.13:g.150671806C>G , CM000669.1:g.150671806C>G	GRCh37
NC_000007.12:g.150302739C>G	NCBI36
NG_008916.1:g.8209G>C , LRG_288:g.8209G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.300G>C MANE Select	ENSP00000262186.5:p.Arg100=
ENST00000262186.9:c.300G>C	ENSP00000262186.5:p.Arg100=
ENST00000430723.4:c.123G>C	ENSP00000387657.4:p.Arg41=
ENST00000532957.5:n.523G>C
NM_000238.3:c.300G>C , LRG_288t1:c.300G>C	NP_000229.1:p.Arg100=
NM_172056.2:c.300G>C , LRG_288t2:c.300G>C	NP_742053.1:p.Arg100=
XM_011516186.1:c.300G>C	XP_011514488.1:p.Arg100=
XM_011516186.3:c.300G>C	XP_011514488.1:p.Arg100=
XM_017012196.1:c.123G>C	XP_016867685.1:p.Arg41=
NM_000238.4:c.300G>C MANE Select	NP_000229.1:p.Arg100=