Canonical Allele Identifier: CA369853698

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150948473-T-G
• MyVariant Identifiers: chr7:g.150645561T>G (hg19) ; chr7:g.150948473T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948473T>G , CM000669.2:g.150948473T>G	GRCh38
NC_000007.13:g.150645561T>G , CM000669.1:g.150645561T>G	GRCh37
NC_000007.12:g.150276494T>G	NCBI36
NG_008916.1:g.34454A>C , LRG_288:g.34454A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3496A>C
ENST00000262186.10:c.2663A>C MANE Select	ENSP00000262186.5:p.Lys888Thr
ENST00000330883.9:c.1643A>C	ENSP00000328531.4:p.Lys548Thr
ENST00000262186.9:c.2663A>C	ENSP00000262186.5:p.Lys888Thr
ENST00000330883.8:c.1643A>C	ENSP00000328531.4:p.Lys548Thr
NM_000238.3:c.2663A>C , LRG_288t1:c.2663A>C	NP_000229.1:p.Lys888Thr
NM_172057.2:c.1643A>C , LRG_288t3:c.1643A>C	NP_742054.1:p.Lys548Thr
XM_011516185.1:c.2363A>C	XP_011514487.1:p.Lys788Thr
XM_011516186.1:c.2663A>C	XP_011514488.1:p.Lys888Thr
XM_011516185.2:c.2363A>C	XP_011514487.1:p.Lys788Thr
XM_011516186.3:c.2663A>C	XP_011514488.1:p.Lys888Thr
XM_017012195.1:c.2513A>C	XP_016867684.1:p.Lys838Thr
XM_017012196.1:c.2486A>C	XP_016867685.1:p.Lys829Thr
NM_000238.4:c.2663A>C MANE Select	NP_000229.1:p.Lys888Thr
NM_172057.3:c.1643A>C	NP_742054.1:p.Lys548Thr