Canonical Allele Identifier: CA074164

Gene: COL3A1

Linked Data

• dbSNP Id: rs149852181
• ExAC: 2:189859310 G / C
• gnomAD v2: 2-189859310-G-C
• gnomAD v3: 2-188994584-G-C
• gnomAD v4: 2-188994584-G-C
• MyVariant Identifiers: chr2:g.189859310G>C (hg19) ; chr2:g.188994584G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994584G>C , CM000664.2:g.188994584G>C	GRCh38
NC_000002.11:g.189859310G>C , CM000664.1:g.189859310G>C	GRCh37
NC_000002.10:g.189567555G>C	NCBI36
NG_007404.1:g.25212G>C , LRG_3:g.25212G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1238G>C	ENSP00000415346.2:p.Arg413Pro
ENST00000304636.9:c.1337G>C MANE Select	ENSP00000304408.4:p.Arg446Pro
ENST00000304636.7:c.1337G>C	ENSP00000304408.3:p.Arg446Pro
ENST00000317840.9:c.1337G>C	ENSP00000315243.6:p.Arg446Pro
NM_000090.3:c.1337G>C , LRG_3t1:c.1337G>C	NP_000081.1:p.Arg446Pro
NM_000090.4:c.1337G>C MANE Select	NP_000081.2:p.Arg446Pro