Canonical Allele Identifier: CA074166
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs770442384
ExAC: 2:189859332 T / A
gnomAD v2: 2-189859332-T-A
MyVariant Identifiers: chr2:g.189859332T>A (hg19) chr2:g.188994606T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994606T>A , CM000664.2:g.188994606T>A GRCh38
NC_000002.11:g.189859332T>A , CM000664.1:g.189859332T>A GRCh37
NC_000002.10:g.189567577T>A NCBI36
NG_007404.1:g.25234T>A , LRG_3:g.25234T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1248+12T>A ENSP00000415346.2:n.1248+12T>A
ENST00000304636.9:c.1347+12T>A MANE Select ENSP00000304408.4:n.1347+12T>A
ENST00000304636.7:c.1347+12T>A ENSP00000304408.3:n.1347+12T>A
ENST00000317840.9:c.1347+12T>A ENSP00000315243.6:n.1347+12T>A
NM_000090.3:c.1347+12T>A , LRG_3t1:c.1347+12T>A NP_000081.1:n.1347+12T>A
NM_000090.4:c.1347+12T>A MANE Select NP_000081.2:n.1347+12T>A
Search 100 bp 5'
Search 100 bp 3'