Canonical Allele Identifier: CA369863901

Gene: KCNH2

Linked Data

• dbSNP Id: rs1202958757
• gnomAD v2: 7-150656812-A-G
• gnomAD v3: 7-150959724-A-G
• gnomAD v4: 7-150959724-A-G
• MyVariant Identifiers: chr7:g.150656812A>G (hg19) ; chr7:g.150959724A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959724A>G , CM000669.2:g.150959724A>G	GRCh38
NC_000007.13:g.150656812A>G , CM000669.1:g.150656812A>G	GRCh37
NC_000007.12:g.150287745A>G	NCBI36
NG_008916.1:g.23203T>C , LRG_288:g.23203T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1153T>C
ENST00000262186.10:c.320T>C MANE Select	ENSP00000262186.5:p.Leu107Pro
ENST00000262186.9:c.320T>C	ENSP00000262186.5:p.Leu107Pro
ENST00000430723.4:c.143T>C	ENSP00000387657.4:p.Leu48Pro
ENST00000532957.5:n.543T>C
NM_000238.3:c.320T>C , LRG_288t1:c.320T>C	NP_000229.1:p.Leu107Pro
NM_172056.2:c.320T>C , LRG_288t2:c.320T>C	NP_742053.1:p.Leu107Pro
XM_011516185.1:c.20T>C	XP_011514487.1:p.Leu7Pro
XM_011516186.1:c.320T>C	XP_011514488.1:p.Leu107Pro
XM_011516185.2:c.20T>C	XP_011514487.1:p.Leu7Pro
XM_011516186.3:c.320T>C	XP_011514488.1:p.Leu107Pro
XM_017012195.1:c.170T>C	XP_016867684.1:p.Leu57Pro
XM_017012196.1:c.143T>C	XP_016867685.1:p.Leu48Pro
NM_000238.4:c.320T>C MANE Select	NP_000229.1:p.Leu107Pro