Canonical Allele Identifier: CA538449101
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1393802941
gnomAD v2: 2-189873387-G-C
gnomAD v3: 2-189008661-G-C
gnomAD v4: 2-189008661-G-C
MyVariant Identifiers: chr2:g.189873387G>C (hg19) chr2:g.189008661G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008661G>C , CM000664.2:g.189008661G>C GRCh38
NC_000002.11:g.189873387G>C , CM000664.1:g.189873387G>C GRCh37
NC_000002.10:g.189581632G>C NCBI36
NG_007404.1:g.39289G>C , LRG_3:g.39289G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3427-263G>C ENSP00000415346.2:n.3427-263G>C
ENST00000304636.9:c.3526-263G>C MANE Select ENSP00000304408.4:n.3526-263G>C
ENST00000304636.7:c.3526-263G>C ENSP00000304408.3:n.3526-263G>C
ENST00000317840.9:c.2617-263G>C ENSP00000315243.6:n.2617-263G>C
ENST00000487010.1:n.360G>C
NM_000090.3:c.3526-263G>C , LRG_3t1:c.3526-263G>C NP_000081.1:n.3526-263G>C
NM_000090.4:c.3526-263G>C MANE Select NP_000081.2:n.3526-263G>C
Search 100 bp 5'
Search 100 bp 3'