Canonical Allele Identifier: CA369861945

Gene: KCNH2

Linked Data

• dbSNP Id: rs372559632
• gnomAD v2: 7-150654584-A-G
• gnomAD v3: 7-150957496-A-G
• gnomAD v4: 7-150957496-A-G
• MyVariant Identifiers: chr7:g.150654584A>G (hg19) ; chr7:g.150957496A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957496A>G , CM000669.2:g.150957496A>G	GRCh38
NC_000007.13:g.150654584A>G , CM000669.1:g.150654584A>G	GRCh37
NC_000007.12:g.150285517A>G	NCBI36
NG_008916.1:g.25431T>C , LRG_288:g.25431T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1756T>C
ENST00000262186.10:c.923T>C MANE Select	ENSP00000262186.5:p.Met308Thr
ENST00000262186.9:c.923T>C	ENSP00000262186.5:p.Met308Thr
ENST00000430723.4:c.575T>C	ENSP00000387657.4:p.Met192Thr
ENST00000532957.5:n.1146T>C
NM_000238.3:c.923T>C , LRG_288t1:c.923T>C	NP_000229.1:p.Met308Thr
NM_172056.2:c.923T>C , LRG_288t2:c.923T>C	NP_742053.1:p.Met308Thr
XM_011516185.1:c.623T>C	XP_011514487.1:p.Met208Thr
XM_011516186.1:c.923T>C	XP_011514488.1:p.Met308Thr
XM_011516185.2:c.623T>C	XP_011514487.1:p.Met208Thr
XM_011516186.3:c.923T>C	XP_011514488.1:p.Met308Thr
XM_017012195.1:c.773T>C	XP_016867684.1:p.Met258Thr
XM_017012196.1:c.746T>C	XP_016867685.1:p.Met249Thr
NM_000238.4:c.923T>C MANE Select	NP_000229.1:p.Met308Thr