Canonical Allele Identifier: CA349849245

Gene: COL3A1

Linked Data

• dbSNP Id: rs1414355898
• gnomAD v2: 2-189875410-C-A
• gnomAD v4: 2-189010684-C-A
• MyVariant Identifiers: chr2:g.189875410C>A (hg19) ; chr2:g.189010684C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189010684C>A , CM000664.2:g.189010684C>A	GRCh38
NC_000002.11:g.189875410C>A , CM000664.1:g.189875410C>A	GRCh37
NC_000002.10:g.189583655C>A	NCBI36
NG_007404.1:g.41312C>A , LRG_3:g.41312C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3949C>A	ENSP00000415346.2:p.Leu1317Ile
ENST00000304636.9:c.4048C>A MANE Select	ENSP00000304408.4:p.Leu1350Ile
ENST00000304636.7:c.4048C>A	ENSP00000304408.3:p.Leu1350Ile
ENST00000317840.9:c.3139C>A	ENSP00000315243.6:p.Leu1047Ile
ENST00000487010.1:n.1427C>A
NM_000090.3:c.4048C>A , LRG_3t1:c.4048C>A	NP_000081.1:p.Leu1350Ile
NM_000090.4:c.4048C>A MANE Select	NP_000081.2:p.Leu1350Ile