Canonical Allele Identifier: CA075010

Gene: COL3A1

Linked Data

• dbSNP Id: rs200541424
• ExAC: 2:189864114 C / G
• gnomAD v2: 2-189864114-C-G
• gnomAD v3: 2-188999388-C-G
• gnomAD v4: 2-188999388-C-G
• MyVariant Identifiers: chr2:g.189864114C>G (hg19) ; chr2:g.188999388C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188999388C>G , CM000664.2:g.188999388C>G	GRCh38
NC_000002.11:g.189864114C>G , CM000664.1:g.189864114C>G	GRCh37
NC_000002.10:g.189572359C>G	NCBI36
NG_007404.1:g.30016C>G , LRG_3:g.30016C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2022+5C>G	ENSP00000415346.2:n.2022+5C>G
ENST00000304636.9:c.2121+5C>G MANE Select	ENSP00000304408.4:n.2121+5C>G
ENST00000304636.7:c.2121+5C>G	ENSP00000304408.3:n.2121+5C>G
ENST00000317840.9:c.2121+5C>G	ENSP00000315243.6:n.2121+5C>G
NM_000090.3:c.2121+5C>G , LRG_3t1:c.2121+5C>G	NP_000081.1:n.2121+5C>G
NM_000090.4:c.2121+5C>G MANE Select	NP_000081.2:n.2121+5C>G