Canonical Allele Identifier: CA1040403874

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 1749888
• ClinVar RCV Id: RCV002353155
• dbSNP Id: rs1688101794
• gnomAD v3: 2-188988134-T-TGTAA
• gnomAD v4: 2-188988134-T-TGTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188988138_188988141dup , CM000664.2:g.188988138_188988141dup	GRCh38
NC_000002.11:g.189852864_189852867dup , CM000664.1:g.189852864_189852867dup	GRCh37
NC_000002.10:g.189561109_189561112dup	NCBI36
NG_007404.1:g.18766_18769dup , LRG_3:g.18766_18769dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.582+4_582+7dup	ENSP00000415346.2:n.582+4_582+7dup
ENST00000304636.9:c.582+4_582+7dup MANE Select	ENSP00000304408.4:n.582+4_582+7dup
ENST00000304636.7:c.582+4_582+7dup	ENSP00000304408.3:n.582+4_582+7dup
ENST00000317840.9:c.582+4_582+7dup	ENSP00000315243.6:n.582+4_582+7dup
NM_000090.3:c.582+4_582+7dup , LRG_3t1:c.582+4_582+7dup	NP_000081.1:n.582+4_582+7dup
NM_000090.4:c.582+4_582+7dup MANE Select	NP_000081.2:n.582+4_582+7dup