Canonical Allele Identifier: CA1040409688

Gene: COL3A1

Linked Data

• dbSNP Id: rs1688392904
• gnomAD v3: 2-188999085-C-A
• gnomAD v4: 2-188999085-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188999085C>A , CM000664.2:g.188999085C>A	GRCh38
NC_000002.11:g.189863811C>A , CM000664.1:g.189863811C>A	GRCh37
NC_000002.10:g.189572056C>A	NCBI36
NG_007404.1:g.29713C>A , LRG_3:g.29713C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1924-200C>A	ENSP00000415346.2:n.1924-200C>A
ENST00000304636.9:c.2023-200C>A MANE Select	ENSP00000304408.4:n.2023-200C>A
ENST00000304636.7:c.2023-200C>A	ENSP00000304408.3:n.2023-200C>A
ENST00000317840.9:c.2023-200C>A	ENSP00000315243.6:n.2023-200C>A
NM_000090.3:c.2023-200C>A , LRG_3t1:c.2023-200C>A	NP_000081.1:n.2023-200C>A
NM_000090.4:c.2023-200C>A MANE Select	NP_000081.2:n.2023-200C>A