Canonical Allele Identifier: CA006219
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101162
ClinVar RCV Id: RCV000087399
dbSNP Id: rs587779469
MyVariant Identifiers: chr2:g.189871700G>A (hg19) chr2:g.189006974G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189006974G>A , CM000664.2:g.189006974G>A GRCh38
NC_000002.11:g.189871700G>A , CM000664.1:g.189871700G>A GRCh37
NC_000002.10:g.189579945G>A NCBI36
NG_007404.1:g.37602G>A , LRG_3:g.37602G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3140G>A ENSP00000415346.2:p.Gly1047Asp
ENST00000304636.9:c.3239G>A MANE Select ENSP00000304408.4:p.Gly1080Asp
ENST00000304636.7:c.3239G>A ENSP00000304408.3:p.Gly1080Asp
ENST00000317840.9:c.2528-1080G>A ENSP00000315243.6:n.2528-1080G>A
NM_000090.3:c.3239G>A , LRG_3t1:c.3239G>A NP_000081.1:p.Gly1080Asp
NM_000090.4:c.3239G>A MANE Select NP_000081.2:p.Gly1080Asp
Search 100 bp 5'
Search 100 bp 3'