Canonical Allele Identifier: CA1139657571
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 915756
ClinVar RCV Id: RCV001171063
dbSNP Id: rs1688600236
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007000G>A , CM000664.2:g.189007000G>A GRCh38
NC_000002.11:g.189871726G>A , CM000664.1:g.189871726G>A GRCh37
NC_000002.10:g.189579971G>A NCBI36
NG_007404.1:g.37628G>A , LRG_3:g.37628G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3156+10G>A ENSP00000415346.2:n.3156+10G>A
ENST00000304636.9:c.3255+10G>A MANE Select ENSP00000304408.4:n.3255+10G>A
ENST00000304636.7:c.3255+10G>A ENSP00000304408.3:n.3255+10G>A
ENST00000317840.9:c.2528-1054G>A ENSP00000315243.6:n.2528-1054G>A
NM_000090.3:c.3255+10G>A , LRG_3t1:c.3255+10G>A NP_000081.1:n.3255+10G>A
NM_000090.4:c.3255+10G>A MANE Select NP_000081.2:n.3255+10G>A
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