Canonical Allele Identifier: CA10611769

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 333082
• ClinVar RCV Id: RCV000381843 ; RCV002504123
• dbSNP Id: rs770571552
• gnomAD v2: 2-189876906-A-G
• gnomAD v3: 2-189012180-A-G
• gnomAD v4: 2-189012180-A-G
• MyVariant Identifiers: chr2:g.189876906A>G (hg19) ; chr2:g.189012180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189012180A>G , CM000664.2:g.189012180A>G	GRCh38
NC_000002.11:g.189876906A>G , CM000664.1:g.189876906A>G	GRCh37
NC_000002.10:g.189585151A>G	NCBI36
NG_007404.1:g.42808A>G , LRG_3:g.42808A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.*406A>G	ENSP00000415346.2:n.*406A>G
ENST00000304636.9:c.*406A>G MANE Select	ENSP00000304408.4:n.*406A>G
ENST00000304636.7:c.*406A>G	ENSP00000304408.3:n.*406A>G
NM_000090.3:c.*406A>G , LRG_3t1:c.*406A>G	NP_000081.1:n.*406A>G
NM_000090.4:c.*406A>G MANE Select	NP_000081.2:n.*406A>G