Canonical Allele Identifier: CA16604274
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 389939
ClinVar RCV Id: RCV000418042
dbSNP Id: rs1057523593

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003732A>C , CM000664.2:g.189003732A>C GRCh38
NC_000002.11:g.189868458A>C , CM000664.1:g.189868458A>C GRCh37
NC_000002.10:g.189576703A>C NCBI36
NG_007404.1:g.34360A>C , LRG_3:g.34360A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2509-2A>C ENSP00000415346.2:n.2509-2A>C
ENST00000304636.9:c.2608-2A>C MANE Select ENSP00000304408.4:n.2608-2A>C
ENST00000304636.7:c.2608-2A>C ENSP00000304408.3:n.2608-2A>C
ENST00000317840.9:c.2527+696A>C ENSP00000315243.6:n.2527+696A>C
ENST00000467886.1:n.43-2A>C
NM_000090.3:c.2608-2A>C , LRG_3t1:c.2608-2A>C NP_000081.1:n.2608-2A>C
NM_000090.4:c.2608-2A>C MANE Select NP_000081.2:n.2608-2A>C