Canonical Allele Identifier: CA430311279

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 511520
• ClinVar RCV Id: RCV000604205 ; RCV001524892 ; RCV002064018
• dbSNP Id: rs1214826179
• gnomAD v2: 2-189867068-T-C
• gnomAD v3: 2-189002342-T-C
• gnomAD v4: 2-189002342-T-C
• MyVariant Identifiers: chr2:g.189867068T>C (hg19) ; chr2:g.189002342T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189002342T>C , CM000664.2:g.189002342T>C	GRCh38
NC_000002.11:g.189867068T>C , CM000664.1:g.189867068T>C	GRCh37
NC_000002.10:g.189575313T>C	NCBI36
NG_007404.1:g.32970T>C , LRG_3:g.32970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2337T>C	ENSP00000415346.2:p.Pro779=
ENST00000304636.9:c.2436T>C MANE Select	ENSP00000304408.4:p.Pro812=
ENST00000304636.7:c.2436T>C	ENSP00000304408.3:p.Pro812=
ENST00000317840.9:c.2436T>C	ENSP00000315243.6:p.Pro812=
NM_000090.3:c.2436T>C , LRG_3t1:c.2436T>C	NP_000081.1:p.Pro812=
NM_000090.4:c.2436T>C MANE Select	NP_000081.2:p.Pro812=