Canonical Allele Identifier: CA004024

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 199751
• ClinVar RCV Id: RCV000181120 ; RCV000709845 ; RCV001190444
• dbSNP Id: rs752110396
• ExAC: 2:189849507 A / G
• gnomAD v2: 2-189849507-A-G
• gnomAD v3: 2-188984781-A-G
• gnomAD v4: 2-188984781-A-G
• MyVariant Identifiers: chr2:g.189849507A>G (hg19) ; chr2:g.188984781A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188984781A>G , CM000664.2:g.188984781A>G	GRCh38
NC_000002.11:g.189849507A>G , CM000664.1:g.189849507A>G	GRCh37
NC_000002.10:g.189557752A>G	NCBI36
NG_007404.1:g.15409A>G , LRG_3:g.15409A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.101A>G	ENSP00000415346.2:p.His34Arg
ENST00000304636.9:c.101A>G MANE Select	ENSP00000304408.4:p.His34Arg
ENST00000304636.7:c.101A>G	ENSP00000304408.3:p.His34Arg
ENST00000317840.9:c.101A>G	ENSP00000315243.6:p.His34Arg
ENST00000470167.1:n.197A>G
NM_000090.3:c.101A>G , LRG_3t1:c.101A>G	NP_000081.1:p.His34Arg
XR_923689.1:n.19T>C
XR_923689.3:n.14T>C
NM_000090.4:c.101A>G MANE Select	NP_000081.2:p.His34Arg