Canonical Allele Identifier: CA458644991

Gene: KCNH2

Linked Data

• dbSNP Id: rs1312626220
• gnomAD v2: 7-150645572-T-C
• gnomAD v4: 7-150948484-T-C
• MyVariant Identifiers: chr7:g.150645572T>C (hg19) ; chr7:g.150948484T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948484T>C , CM000669.2:g.150948484T>C	GRCh38
NC_000007.13:g.150645572T>C , CM000669.1:g.150645572T>C	GRCh37
NC_000007.12:g.150276505T>C	NCBI36
NG_008916.1:g.34443A>G , LRG_288:g.34443A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3485A>G
ENST00000262186.10:c.2652A>G MANE Select	ENSP00000262186.5:p.Gln884=
ENST00000330883.9:c.1632A>G	ENSP00000328531.4:p.Gln544=
ENST00000262186.9:c.2652A>G	ENSP00000262186.5:p.Gln884=
ENST00000330883.8:c.1632A>G	ENSP00000328531.4:p.Gln544=
NM_000238.3:c.2652A>G , LRG_288t1:c.2652A>G	NP_000229.1:p.Gln884=
NM_172057.2:c.1632A>G , LRG_288t3:c.1632A>G	NP_742054.1:p.Gln544=
XM_011516185.1:c.2352A>G	XP_011514487.1:p.Gln784=
XM_011516186.1:c.2652A>G	XP_011514488.1:p.Gln884=
XM_011516185.2:c.2352A>G	XP_011514487.1:p.Gln784=
XM_011516186.3:c.2652A>G	XP_011514488.1:p.Gln884=
XM_017012195.1:c.2502A>G	XP_016867684.1:p.Gln834=
XM_017012196.1:c.2475A>G	XP_016867685.1:p.Gln825=
NM_000238.4:c.2652A>G MANE Select	NP_000229.1:p.Gln884=
NM_172057.3:c.1632A>G	NP_742054.1:p.Gln544=