Canonical Allele Identifier: CA430442217

Gene: COL3A1

Linked Data

• dbSNP Id: rs1159996240
• gnomAD v2: 2-189875406-T-C
• gnomAD v4: 2-189010680-T-C
• MyVariant Identifiers: chr2:g.189875406T>C (hg19) ; chr2:g.189010680T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189010680T>C , CM000664.2:g.189010680T>C	GRCh38
NC_000002.11:g.189875406T>C , CM000664.1:g.189875406T>C	GRCh37
NC_000002.10:g.189583651T>C	NCBI36
NG_007404.1:g.41308T>C , LRG_3:g.41308T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3945T>C	ENSP00000415346.2:p.Asp1315=
ENST00000304636.9:c.4044T>C MANE Select	ENSP00000304408.4:p.Asp1348=
ENST00000304636.7:c.4044T>C	ENSP00000304408.3:p.Asp1348=
ENST00000317840.9:c.3135T>C	ENSP00000315243.6:p.Asp1045=
ENST00000487010.1:n.1423T>C
NM_000090.3:c.4044T>C , LRG_3t1:c.4044T>C	NP_000081.1:p.Asp1348=
NM_000090.4:c.4044T>C MANE Select	NP_000081.2:p.Asp1348=