Canonical Allele Identifier: CA004110

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 199718
• ClinVar RCV Id: RCV000181079 ; RCV000465133 ; RCV000778019 ; RCV004537521 ; RCV002478603
• dbSNP Id: rs200394946
• ExAC: 2:189858779 A / T
• gnomAD v2: 2-189858779-A-T
• gnomAD v3: 2-188994053-A-T
• gnomAD v4: 2-188994053-A-T
• MyVariant Identifiers: chr2:g.189858779A>T (hg19) ; chr2:g.188994053A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994053A>T , CM000664.2:g.188994053A>T	GRCh38
NC_000002.11:g.189858779A>T , CM000664.1:g.189858779A>T	GRCh37
NC_000002.10:g.189567024A>T	NCBI36
NG_007404.1:g.24681A>T , LRG_3:g.24681A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1066A>T	ENSP00000415346.2:p.Asn356Tyr
ENST00000304636.9:c.1165A>T MANE Select	ENSP00000304408.4:p.Asn389Tyr
ENST00000304636.7:c.1165A>T	ENSP00000304408.3:p.Asn389Tyr
ENST00000317840.9:c.1165A>T	ENSP00000315243.6:p.Asn389Tyr
ENST00000450867.1:c.164A>T
NM_000090.3:c.1165A>T , LRG_3t1:c.1165A>T	NP_000081.1:p.Asn389Tyr
NM_000090.4:c.1165A>T MANE Select	NP_000081.2:p.Asn389Tyr