Canonical Allele Identifier: CA458872481

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150672001C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974913C>G , CM000669.2:g.150974913C>G	GRCh38
NC_000007.13:g.150672001C>G , CM000669.1:g.150672001C>G	GRCh37
NC_000007.12:g.150302934C>G	NCBI36
NG_008916.1:g.8014G>C , LRG_288:g.8014G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.105G>C MANE Select	ENSP00000262186.5:p.Arg35=
ENST00000262186.9:c.105G>C	ENSP00000262186.5:p.Arg35=
ENST00000430723.4:c.-73G>C	ENSP00000387657.4:n.-73G>C
ENST00000532957.5:n.328G>C
NM_000238.3:c.105G>C , LRG_288t1:c.105G>C	NP_000229.1:p.Arg35=
NM_172056.2:c.105G>C , LRG_288t2:c.105G>C	NP_742053.1:p.Arg35=
XM_011516186.1:c.105G>C	XP_011514488.1:p.Arg35=
XM_011516186.3:c.105G>C	XP_011514488.1:p.Arg35=
XM_017012196.1:c.-73G>C	XP_016867685.1:n.-73G>C
NM_000238.4:c.105G>C MANE Select	NP_000229.1:p.Arg35=