Canonical Allele Identifier: CA4448457

Gene: MET

Linked Data

• ClinVar Variation Id: 3232933
• ClinVar RCV Id: RCV004523565
• dbSNP Id: rs776829098
• ExAC: 7:116399538 T / C
• gnomAD v2: 7-116399538-T-C
• gnomAD v4: 7-116759484-T-C
• MyVariant Identifiers: chr7:g.116399538T>C (hg19) ; chr7:g.116759484T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116759484T>C , CM000669.2:g.116759484T>C	GRCh38
NC_000007.13:g.116399538T>C , CM000669.1:g.116399538T>C	GRCh37
NC_000007.12:g.116186774T>C	NCBI36
NG_008996.1:g.92080T>C , LRG_662:g.92080T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422097.2:c.2358T>C	ENSP00000398776.2:p.Phe786=
ENST00000436117.3:c.2264+864T>C	ENSP00000410980.2:n.2264+864T>C
ENST00000318493.11:c.2412T>C	ENSP00000317272.6:p.Phe804=
ENST00000397752.8:c.2358T>C MANE Select	ENSP00000380860.3:p.Phe786=
ENST00000318493.10:c.2412T>C	ENSP00000317272.6:p.Phe804=
ENST00000397752.7:c.2358T>C	ENSP00000380860.3:p.Phe786=
ENST00000422097.1:c.198T>C	ENSP00000398776.1:p.Phe66=
ENST00000436117.2:c.2264+864T>C	ENSP00000410980.2:n.2264+864T>C
NM_000245.2:c.2358T>C	NP_000236.2:p.Phe786=
NM_001127500.1:c.2412T>C , LRG_662t1:c.2412T>C	NP_001120972.1:p.Phe804=
XM_006715990.2:c.1068T>C	XP_006716053.1:p.Phe356=
XM_006715991.2:c.1068T>C	XP_006716054.1:p.Phe356=
XM_011516223.1:c.2415T>C	XP_011514525.1:p.Phe805=
NM_000245.3:c.2358T>C	NP_000236.2:p.Phe786=
NM_001127500.2:c.2412T>C	NP_001120972.1:p.Phe804=
NM_001324401.1:c.2358T>C	NP_001311330.1:p.Phe786=
NM_001324402.1:c.1068T>C	NP_001311331.1:p.Phe356=
XR_001744772.1:n.2495+864T>C
NM_001127500.3:c.2412T>C	NP_001120972.1:p.Phe804=
NM_000245.4:c.2358T>C MANE Select	NP_000236.2:p.Phe786=
NM_001324401.2:c.2358T>C	NP_001311330.1:p.Phe786=
NM_001324402.2:c.1068T>C	NP_001311331.1:p.Phe356=
NM_001324401.3:c.2358T>C	NP_001311330.1:p.Phe786=