Canonical Allele Identifier: CA007097

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 199712
• ClinVar RCV Id: RCV000181070 ; RCV001185490 ; RCV002277437 ; RCV003633485
• dbSNP Id: rs751350498
• ExAC: 2:189853319 T / C
• gnomAD v2: 2-189853319-T-C
• gnomAD v3: 2-188988593-T-C
• gnomAD v4: 2-188988593-T-C
• MyVariant Identifiers: chr2:g.189853319T>C (hg19) ; chr2:g.188988593T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188988593T>C , CM000664.2:g.188988593T>C	GRCh38
NC_000002.11:g.189853319T>C , CM000664.1:g.189853319T>C	GRCh37
NC_000002.10:g.189561564T>C	NCBI36
NG_007404.1:g.19221T>C , LRG_3:g.19221T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.586T>C	ENSP00000415346.2:p.Ser196Pro
ENST00000304636.9:c.586T>C MANE Select	ENSP00000304408.4:p.Ser196Pro
ENST00000304636.7:c.586T>C	ENSP00000304408.3:p.Ser196Pro
ENST00000317840.9:c.586T>C	ENSP00000315243.6:p.Ser196Pro
NM_000090.3:c.586T>C , LRG_3t1:c.586T>C	NP_000081.1:p.Ser196Pro
NM_000090.4:c.586T>C MANE Select	NP_000081.2:p.Ser196Pro