Canonical Allele Identifier: CA334261

Gene: MET

Linked Data

• ClinVar Variation Id: 188184
• ClinVar RCV Id: RCV000168093 ; RCV001017689 ; RCV001293451 ; RCV002267924 ; RCV002281988 ; RCV003468824
• dbSNP Id: rs45607832
• ExAC: 7:116411924 G / A
• gnomAD v2: 7-116411924-G-A
• gnomAD v3: 7-116771870-G-A
• gnomAD v4: 7-116771870-G-A
• MyVariant Identifiers: chr7:g.116411924G>A (hg19) ; chr7:g.116771870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116771870G>A , CM000669.2:g.116771870G>A	GRCh38
NC_000007.13:g.116411924G>A , CM000669.1:g.116411924G>A	GRCh37
NC_000007.12:g.116199160G>A	NCBI36
NG_008996.1:g.104466G>A , LRG_662:g.104466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.*514G>A	ENSP00000410980.2:n.*514G>A
ENST00000318493.11:c.2963G>A	ENSP00000317272.6:p.Arg988His
ENST00000397752.8:c.2909G>A MANE Select	ENSP00000380860.3:p.Arg970His
ENST00000318493.10:c.2963G>A	ENSP00000317272.6:p.Arg988His
ENST00000397752.7:c.2909G>A	ENSP00000380860.3:p.Arg970His
ENST00000454623.1:c.283+216G>A	ENSP00000398140.1:n.283+216G>A
NM_000245.2:c.2909G>A	NP_000236.2:p.Arg970His
NM_001127500.1:c.2963G>A , LRG_662t1:c.2963G>A	NP_001120972.1:p.Arg988His
XM_006715990.2:c.1619G>A	XP_006716053.1:p.Arg540His
XM_006715991.2:c.1619G>A	XP_006716054.1:p.Arg540His
XM_011516223.1:c.2966G>A	XP_011514525.1:p.Arg989His
NM_000245.3:c.2909G>A	NP_000236.2:p.Arg970His
NM_001127500.2:c.2963G>A	NP_001120972.1:p.Arg988His
NM_001324402.1:c.1619G>A	NP_001311331.1:p.Arg540His
XR_001744772.1:n.3040G>A
NM_001127500.3:c.2963G>A	NP_001120972.1:p.Arg988His
NM_000245.4:c.2909G>A MANE Select	NP_000236.2:p.Arg970His
NM_001324402.2:c.1619G>A	NP_001311331.1:p.Arg540His