Canonical Allele Identifier: CA6250814
Gene: MMP3 HGNC NCBI
WTAPP1 HGNC NCBI
COSMIC:
COSN8863113 (not active)
COSN26729601 (not active)
gnomAD v2:
11:102707305 G / A
gnomAD v3:
11:102836574 G / A
gnomAD v4:
chr11-102836574-G-A
Joint Max Group AF 0.13552548 (NFE)
Genomes Max Group AF 0.13109888 (NFE)
Exomes Max Group AF 0.13665109 (NFE)
ClinVar RCV:
RCV001674814
ClinVar Variation:
1263820
dbSNP:
569444
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102836574G>A , CM000673.2:g.102836574G>A GRCh38
NC_000011.9:g.102707305G>A , CM000673.1:g.102707305G>A GRCh37
NC_000011.8:g.102212515G>A NCBI36
NG_012100.1:g.12038C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299855.10:c.1334-348C>T (MMP3) MANE Select ENSP00000299855.5:n.1334-348C>T
ENST00000299855.9:c.1334-348C>T (MMP3) ENSP00000299855.5:n.1334-348C>T
ENST00000434103.1:c.265-46C>T (MMP3)
ENST00000525739.6:n.2450G>A (WTAPP1)
NM_002422.3:c.1334-348C>T (MMP3) NP_002413.1:n.1334-348C>T
NM_002422.4:c.1334-348C>T (MMP3) NP_002413.1:n.1334-348C>T
NR_038390.1:n.2450G>A (WTAPP1)
NM_002422.5:c.1334-348C>T (MMP3) MANE Select NP_002413.1:n.1334-348C>T
Search 100 bp 5'
Search 100 bp 3'