Canonical Allele Identifier: CA1040406430

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 1592056
• ClinVar RCV Id: RCV002111529
• dbSNP Id: rs1688258466
• gnomAD v3: 2-188994529-G-GTTATACT
• gnomAD v4: 2-188994529-G-GTTATACT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994533_188994539dup , CM000664.2:g.188994533_188994539dup	GRCh38
NC_000002.11:g.189859259_189859265dup , CM000664.1:g.189859259_189859265dup	GRCh37
NC_000002.10:g.189567504_189567510dup	NCBI36
NG_007404.1:g.25161_25167dup , LRG_3:g.25161_25167dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1195-8_1195-2dup	ENSP00000415346.2:n.1195-8_1195-2dup
ENST00000304636.9:c.1294-8_1294-2dup MANE Select	ENSP00000304408.4:n.1294-8_1294-2dup
ENST00000304636.7:c.1294-8_1294-2dup	ENSP00000304408.3:n.1294-8_1294-2dup
ENST00000317840.9:c.1294-8_1294-2dup	ENSP00000315243.6:n.1294-8_1294-2dup
NM_000090.3:c.1294-8_1294-2dup , LRG_3t1:c.1294-8_1294-2dup	NP_000081.1:n.1294-8_1294-2dup
NM_000090.4:c.1294-8_1294-2dup MANE Select	NP_000081.2:n.1294-8_1294-2dup