Canonical Allele Identifier: CA1543908
Gene: MATN3 HGNC NCBI

Linked Data

dbSNP Id: rs752508536
gnomAD v2: 2-20205523-A-C
gnomAD v3: 2-20005762-A-C
gnomAD v4: 2-20005762-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005762A>C , CM000664.2:g.20005762A>C GRCh38
NC_000002.11:g.20205523A>C , CM000664.1:g.20205523A>C GRCh37
NC_000002.10:g.20069004A>C NCBI36
NG_008087.1:g.11933T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.772T>G MANE Select ENSP00000383894.3:p.Phe258Val
ENST00000407540.7:c.772T>G ENSP00000383894.3:p.Phe258Val
ENST00000421259.2:c.772T>G ENSP00000398753.2:p.Phe258Val
NM_002381.4:c.772T>G NP_002372.1:p.Phe258Val
NM_002381.5:c.772T>G MANE Select NP_002372.1:p.Phe258Val