Canonical Allele Identifier: CA076149

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 511732
• ClinVar RCV Id: RCV000614499 ; RCV001176352 ; RCV002279413 ; RCV002529689
• dbSNP Id: rs546664098
• ExAC: 2:189872848 A / C
• gnomAD v2: 2-189872848-A-C
• gnomAD v3: 2-189008122-A-C
• gnomAD v4: 2-189008122-A-C
• MyVariant Identifiers: chr2:g.189872848A>C (hg19) ; chr2:g.189008122A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008122A>C , CM000664.2:g.189008122A>C	GRCh38
NC_000002.11:g.189872848A>C , CM000664.1:g.189872848A>C	GRCh37
NC_000002.10:g.189581093A>C	NCBI36
NG_007404.1:g.38750A>C , LRG_3:g.38750A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3406A>C	ENSP00000415346.2:p.Arg1136=
ENST00000304636.9:c.3505A>C MANE Select	ENSP00000304408.4:p.Arg1169=
ENST00000304636.7:c.3505A>C	ENSP00000304408.3:p.Arg1169=
ENST00000317840.9:c.2596A>C	ENSP00000315243.6:p.Arg866=
NM_000090.3:c.3505A>C , LRG_3t1:c.3505A>C	NP_000081.1:p.Arg1169=
NM_000090.4:c.3505A>C MANE Select	NP_000081.2:p.Arg1169=