Canonical Allele Identifier: CA369854922

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 3074117
• ClinVar RCV Id: RCV004012659
• gnomAD v4: 7-150948917-A-G
• MyVariant Identifiers: chr7:g.150646005A>G (hg19) ; chr7:g.150948917A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948917A>G , CM000669.2:g.150948917A>G	GRCh38
NC_000007.13:g.150646005A>G , CM000669.1:g.150646005A>G	GRCh37
NC_000007.12:g.150276938A>G	NCBI36
NG_008916.1:g.34010T>C , LRG_288:g.34010T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3364T>C
ENST00000262186.10:c.2531T>C MANE Select	ENSP00000262186.5:p.Met844Thr
ENST00000330883.9:c.1511T>C	ENSP00000328531.4:p.Met504Thr
ENST00000262186.9:c.2531T>C	ENSP00000262186.5:p.Met844Thr
ENST00000330883.8:c.1511T>C	ENSP00000328531.4:p.Met504Thr
NM_000238.3:c.2531T>C , LRG_288t1:c.2531T>C	NP_000229.1:p.Met844Thr
NM_172057.2:c.1511T>C , LRG_288t3:c.1511T>C	NP_742054.1:p.Met504Thr
XM_011516185.1:c.2231T>C	XP_011514487.1:p.Met744Thr
XM_011516186.1:c.2531T>C	XP_011514488.1:p.Met844Thr
XM_011516185.2:c.2231T>C	XP_011514487.1:p.Met744Thr
XM_011516186.3:c.2531T>C	XP_011514488.1:p.Met844Thr
XM_017012195.1:c.2381T>C	XP_016867684.1:p.Met794Thr
XM_017012196.1:c.2354T>C	XP_016867685.1:p.Met785Thr
NM_000238.4:c.2531T>C MANE Select	NP_000229.1:p.Met844Thr
NM_172057.3:c.1511T>C	NP_742054.1:p.Met504Thr