Canonical Allele Identifier: CA2662289014

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188994450-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994450C>G , CM000664.2:g.188994450C>G	GRCh38
NC_000002.11:g.189859176C>G , CM000664.1:g.189859176C>G	GRCh37
NC_000002.10:g.189567421C>G	NCBI36
NG_007404.1:g.25078C>G , LRG_3:g.25078C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1195-91C>G	ENSP00000415346.2:n.1195-91C>G
ENST00000304636.9:c.1294-91C>G MANE Select	ENSP00000304408.4:n.1294-91C>G
ENST00000304636.7:c.1294-91C>G	ENSP00000304408.3:n.1294-91C>G
ENST00000317840.9:c.1294-91C>G	ENSP00000315243.6:n.1294-91C>G
NM_000090.3:c.1294-91C>G , LRG_3t1:c.1294-91C>G	NP_000081.1:n.1294-91C>G
NM_000090.4:c.1294-91C>G MANE Select	NP_000081.2:n.1294-91C>G