Canonical Allele Identifier: CA458644821

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644454C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947366C>G , CM000669.2:g.150947366C>G	GRCh38
NC_000007.13:g.150644454C>G , CM000669.1:g.150644454C>G	GRCh37
NC_000007.12:g.150275387C>G	NCBI36
NG_008916.1:g.35561G>C , LRG_288:g.35561G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3947G>C
ENST00000262186.10:c.3114G>C MANE Select	ENSP00000262186.5:p.Val1038=
ENST00000330883.9:c.2094G>C	ENSP00000328531.4:p.Val698=
ENST00000262186.9:c.3114G>C	ENSP00000262186.5:p.Val1038=
ENST00000330883.8:c.2094G>C	ENSP00000328531.4:p.Val698=
NM_000238.3:c.3114G>C , LRG_288t1:c.3114G>C	NP_000229.1:p.Val1038=
NM_172057.2:c.2094G>C , LRG_288t3:c.2094G>C	NP_742054.1:p.Val698=
XM_011516185.1:c.2814G>C	XP_011514487.1:p.Val938=
XM_011516185.2:c.2814G>C	XP_011514487.1:p.Val938=
XM_017012195.1:c.2964G>C	XP_016867684.1:p.Val988=
XM_017012196.1:c.2937G>C	XP_016867685.1:p.Val979=
NM_000238.4:c.3114G>C MANE Select	NP_000229.1:p.Val1038=
NM_172057.3:c.2094G>C	NP_742054.1:p.Val698=