Canonical Allele Identifier: CA4448486

Gene: MET

Linked Data

• ClinVar Variation Id: 1791827
• ClinVar RCV Id: RCV002443908
• dbSNP Id: rs752535640
• ExAC: 7:116403160 A / G
• gnomAD v2: 7-116403160-A-G
• gnomAD v4: 7-116763106-A-G
• MyVariant Identifiers: chr7:g.116403160A>G (hg19) ; chr7:g.116763106A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116763106A>G , CM000669.2:g.116763106A>G	GRCh38
NC_000007.13:g.116403160A>G , CM000669.1:g.116403160A>G	GRCh37
NC_000007.12:g.116190396A>G	NCBI36
NG_008996.1:g.95702A>G , LRG_662:g.95702A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000422097.2:c.2421A>G	ENSP00000398776.2:p.Gln807=
ENST00000436117.3:c.*26A>G	ENSP00000410980.2:n.*26A>G
ENST00000318493.11:c.2475A>G	ENSP00000317272.6:p.Gln825=
ENST00000397752.8:c.2421A>G MANE Select	ENSP00000380860.3:p.Gln807=
ENST00000318493.10:c.2475A>G	ENSP00000317272.6:p.Gln825=
ENST00000397752.7:c.2421A>G	ENSP00000380860.3:p.Gln807=
ENST00000422097.1:c.261A>G	ENSP00000398776.1:p.Gln87=
NM_000245.2:c.2421A>G	NP_000236.2:p.Gln807=
NM_001127500.1:c.2475A>G , LRG_662t1:c.2475A>G	NP_001120972.1:p.Gln825=
XM_006715990.2:c.1131A>G	XP_006716053.1:p.Gln377=
XM_006715991.2:c.1131A>G	XP_006716054.1:p.Gln377=
XM_011516223.1:c.2478A>G	XP_011514525.1:p.Gln826=
NM_000245.3:c.2421A>G	NP_000236.2:p.Gln807=
NM_001127500.2:c.2475A>G	NP_001120972.1:p.Gln825=
NM_001324401.1:c.2421A>G	NP_001311330.1:p.Gln807=
NM_001324402.1:c.1131A>G	NP_001311331.1:p.Gln377=
XR_001744772.1:n.2552A>G
NM_001127500.3:c.2475A>G	NP_001120972.1:p.Gln825=
NM_000245.4:c.2421A>G MANE Select	NP_000236.2:p.Gln807=
NM_001324401.2:c.2421A>G	NP_001311330.1:p.Gln807=
NM_001324402.2:c.1131A>G	NP_001311331.1:p.Gln377=
NM_001324401.3:c.2421A>G	NP_001311330.1:p.Gln807=