Canonical Allele Identifier: CA762202819

Gene: COL3A1

Linked Data

• dbSNP Id: rs1393136824
• gnomAD v3: 2-189002686-G-T
• gnomAD v4: 2-189002686-G-T
• MyVariant Identifiers: chr2:g.189867412G>T (hg19) ; chr2:g.189002686G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189002686G>T , CM000664.2:g.189002686G>T	GRCh38
NC_000002.11:g.189867412G>T , CM000664.1:g.189867412G>T	GRCh37
NC_000002.10:g.189575657G>T	NCBI36
NG_007404.1:g.33314G>T , LRG_3:g.33314G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2347-269G>T	ENSP00000415346.2:n.2347-269G>T
ENST00000304636.9:c.2446-269G>T MANE Select	ENSP00000304408.4:n.2446-269G>T
ENST00000304636.7:c.2446-269G>T	ENSP00000304408.3:n.2446-269G>T
ENST00000317840.9:c.2446-269G>T	ENSP00000315243.6:n.2446-269G>T
NM_000090.3:c.2446-269G>T , LRG_3t1:c.2446-269G>T	NP_000081.1:n.2446-269G>T
NM_000090.4:c.2446-269G>T MANE Select	NP_000081.2:n.2446-269G>T