Canonical Allele Identifier: CA006308

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 199742
• ClinVar RCV Id: RCV000181110 ; RCV000692659 ; RCV000778021 ; RCV002277439 ; RCV002492798
• dbSNP Id: rs112371422
• ExAC: 2:189872295 C / G
• gnomAD v2: 2-189872295-C-G
• gnomAD v3: 2-189007569-C-G
• gnomAD v4: 2-189007569-C-G
• MyVariant Identifiers: chr2:g.189872295C>G (hg19) ; chr2:g.189007569C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189007569C>G , CM000664.2:g.189007569C>G	GRCh38
NC_000002.11:g.189872295C>G , CM000664.1:g.189872295C>G	GRCh37
NC_000002.10:g.189580540C>G	NCBI36
NG_007404.1:g.38197C>G , LRG_3:g.38197C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3226C>G	ENSP00000415346.2:p.Arg1076Gly
ENST00000304636.9:c.3325C>G MANE Select	ENSP00000304408.4:p.Arg1109Gly
ENST00000304636.7:c.3325C>G	ENSP00000304408.3:p.Arg1109Gly
ENST00000317840.9:c.2528-485C>G	ENSP00000315243.6:n.2528-485C>G
NM_000090.3:c.3325C>G , LRG_3t1:c.3325C>G	NP_000081.1:p.Arg1109Gly
NM_000090.4:c.3325C>G MANE Select	NP_000081.2:p.Arg1109Gly