Canonical Allele Identifier: CA349851638

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 918598
• ClinVar RCV Id: RCV001176263 ; RCV001875804
• dbSNP Id: rs751471411
• gnomAD v2: 2-189859280-A-G
• gnomAD v3: 2-188994554-A-G
• gnomAD v4: 2-188994554-A-G
• COSMIC: COSM1248844
• MyVariant Identifiers: chr2:g.189859280A>G (hg19) ; chr2:g.188994554A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994554A>G , CM000664.2:g.188994554A>G	GRCh38
NC_000002.11:g.189859280A>G , CM000664.1:g.189859280A>G	GRCh37
NC_000002.10:g.189567525A>G	NCBI36
NG_007404.1:g.25182A>G , LRG_3:g.25182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1208A>G	ENSP00000415346.2:p.Lys403Arg
ENST00000304636.9:c.1307A>G MANE Select	ENSP00000304408.4:p.Lys436Arg
ENST00000304636.7:c.1307A>G	ENSP00000304408.3:p.Lys436Arg
ENST00000317840.9:c.1307A>G	ENSP00000315243.6:p.Lys436Arg
NM_000090.3:c.1307A>G , LRG_3t1:c.1307A>G	NP_000081.1:p.Lys436Arg
NM_000090.4:c.1307A>G MANE Select	NP_000081.2:p.Lys436Arg