Canonical Allele Identifier: CA1040413838

Gene: COL3A1

Linked Data

• dbSNP Id: rs1688648284
• gnomAD v3: 2-189008571-A-G
• gnomAD v4: 2-189008571-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008571A>G , CM000664.2:g.189008571A>G	GRCh38
NC_000002.11:g.189873297A>G , CM000664.1:g.189873297A>G	GRCh37
NC_000002.10:g.189581542A>G	NCBI36
NG_007404.1:g.39199A>G , LRG_3:g.39199A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3427-353A>G	ENSP00000415346.2:n.3427-353A>G
ENST00000304636.9:c.3526-353A>G MANE Select	ENSP00000304408.4:n.3526-353A>G
ENST00000304636.7:c.3526-353A>G	ENSP00000304408.3:n.3526-353A>G
ENST00000317840.9:c.2617-353A>G	ENSP00000315243.6:n.2617-353A>G
ENST00000487010.1:n.270A>G
NM_000090.3:c.3526-353A>G , LRG_3t1:c.3526-353A>G	NP_000081.1:n.3526-353A>G
NM_000090.4:c.3526-353A>G MANE Select	NP_000081.2:n.3526-353A>G