Canonical Allele Identifier: CA458644792

Gene: KCNH2

Linked Data

• dbSNP Id: rs1335700038
• gnomAD v2: 7-150644424-C-T
• MyVariant Identifiers: chr7:g.150644424C>T (hg19) ; chr7:g.150947336C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947336C>T , CM000669.2:g.150947336C>T	GRCh38
NC_000007.13:g.150644424C>T , CM000669.1:g.150644424C>T	GRCh37
NC_000007.12:g.150275357C>T	NCBI36
NG_008916.1:g.35591G>A , LRG_288:g.35591G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3977G>A
ENST00000262186.10:c.3144G>A MANE Select	ENSP00000262186.5:p.Gln1048=
ENST00000330883.9:c.2124G>A	ENSP00000328531.4:p.Gln708=
ENST00000262186.9:c.3144G>A	ENSP00000262186.5:p.Gln1048=
ENST00000330883.8:c.2124G>A	ENSP00000328531.4:p.Gln708=
NM_000238.3:c.3144G>A , LRG_288t1:c.3144G>A	NP_000229.1:p.Gln1048=
NM_172057.2:c.2124G>A , LRG_288t3:c.2124G>A	NP_742054.1:p.Gln708=
XM_011516185.1:c.2844G>A	XP_011514487.1:p.Gln948=
XM_011516185.2:c.2844G>A	XP_011514487.1:p.Gln948=
XM_017012195.1:c.2994G>A	XP_016867684.1:p.Gln998=
XM_017012196.1:c.2967G>A	XP_016867685.1:p.Gln989=
NM_000238.4:c.3144G>A MANE Select	NP_000229.1:p.Gln1048=
NM_172057.3:c.2124G>A	NP_742054.1:p.Gln708=