Canonical Allele Identifier: CA369853703

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948474-T-G
• MyVariant Identifiers: chr7:g.150645562T>G (hg19) ; chr7:g.150948474T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948474T>G , CM000669.2:g.150948474T>G	GRCh38
NC_000007.13:g.150645562T>G , CM000669.1:g.150645562T>G	GRCh37
NC_000007.12:g.150276495T>G	NCBI36
NG_008916.1:g.34453A>C , LRG_288:g.34453A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3495A>C
ENST00000262186.10:c.2662A>C MANE Select	ENSP00000262186.5:p.Lys888Gln
ENST00000330883.9:c.1642A>C	ENSP00000328531.4:p.Lys548Gln
ENST00000262186.9:c.2662A>C	ENSP00000262186.5:p.Lys888Gln
ENST00000330883.8:c.1642A>C	ENSP00000328531.4:p.Lys548Gln
NM_000238.3:c.2662A>C , LRG_288t1:c.2662A>C	NP_000229.1:p.Lys888Gln
NM_172057.2:c.1642A>C , LRG_288t3:c.1642A>C	NP_742054.1:p.Lys548Gln
XM_011516185.1:c.2362A>C	XP_011514487.1:p.Lys788Gln
XM_011516186.1:c.2662A>C	XP_011514488.1:p.Lys888Gln
XM_011516185.2:c.2362A>C	XP_011514487.1:p.Lys788Gln
XM_011516186.3:c.2662A>C	XP_011514488.1:p.Lys888Gln
XM_017012195.1:c.2512A>C	XP_016867684.1:p.Lys838Gln
XM_017012196.1:c.2485A>C	XP_016867685.1:p.Lys829Gln
NM_000238.4:c.2662A>C MANE Select	NP_000229.1:p.Lys888Gln
NM_172057.3:c.1642A>C	NP_742054.1:p.Lys548Gln