Canonical Allele Identifier: CA62598802

Gene: COL3A1

Linked Data

• dbSNP Id: rs765920335
• gnomAD v2: 2-189862018-G-C
• gnomAD v3: 2-188997292-G-C
• gnomAD v4: 2-188997292-G-C
• MyVariant Identifiers: chr2:g.189862018G>C (hg19) ; chr2:g.188997292G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188997292G>C , CM000664.2:g.188997292G>C	GRCh38
NC_000002.11:g.189862018G>C , CM000664.1:g.189862018G>C	GRCh37
NC_000002.10:g.189570263G>C	NCBI36
NG_007404.1:g.27920G>C , LRG_3:g.27920G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1717-44G>C	ENSP00000415346.2:n.1717-44G>C
ENST00000304636.9:c.1816-44G>C MANE Select	ENSP00000304408.4:n.1816-44G>C
ENST00000304636.7:c.1816-44G>C	ENSP00000304408.3:n.1816-44G>C
ENST00000317840.9:c.1816-44G>C	ENSP00000315243.6:n.1816-44G>C
NM_000090.3:c.1816-44G>C , LRG_3t1:c.1816-44G>C	NP_000081.1:n.1816-44G>C
NM_000090.4:c.1816-44G>C MANE Select	NP_000081.2:n.1816-44G>C