Canonical Allele Identifier: CA762194584
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1275173277
gnomAD v3: 2-188993944-C-A
gnomAD v4: 2-188993944-C-A
MyVariant Identifiers: chr2:g.189858670C>A (hg19) chr2:g.188993944C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993944C>A , CM000664.2:g.188993944C>A GRCh38
NC_000002.11:g.189858670C>A , CM000664.1:g.189858670C>A GRCh37
NC_000002.10:g.189566915C>A NCBI36
NG_007404.1:g.24572C>A , LRG_3:g.24572C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1051-94C>A ENSP00000415346.2:n.1051-94C>A
ENST00000304636.9:c.1150-94C>A MANE Select ENSP00000304408.4:n.1150-94C>A
ENST00000304636.7:c.1150-94C>A ENSP00000304408.3:n.1150-94C>A
ENST00000317840.9:c.1150-94C>A ENSP00000315243.6:n.1150-94C>A
ENST00000450867.1:c.149-94C>A
NM_000090.3:c.1150-94C>A , LRG_3t1:c.1150-94C>A NP_000081.1:n.1150-94C>A
NM_000090.4:c.1150-94C>A MANE Select NP_000081.2:n.1150-94C>A
Search 100 bp 5'
Search 100 bp 3'