Canonical Allele Identifier: CA2493007806
Gene: MATN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1668649
ClinVar RCV Id: RCV002196056
dbSNP Id: rs1673087252
gnomAD v4: 2-20005733-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.20005733G>A , CM000664.2:g.20005733G>A GRCh38
NC_000002.11:g.20205494G>A , CM000664.1:g.20205494G>A GRCh37
NC_000002.10:g.20068975G>A NCBI36
NG_008087.1:g.11962C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407540.8:c.790+11C>T MANE Select ENSP00000383894.3:n.790+11C>T
ENST00000407540.7:c.790+11C>T ENSP00000383894.3:n.790+11C>T
ENST00000421259.2:c.790+11C>T ENSP00000398753.2:n.790+11C>T
NM_002381.4:c.790+11C>T NP_002372.1:n.790+11C>T
NM_002381.5:c.790+11C>T MANE Select NP_002372.1:n.790+11C>T
Search 100 bp 5'
Search 100 bp 3'