Canonical Allele Identifier: CA077155
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1198227
ClinVar RCV Id: RCV001562316
dbSNP Id: rs41272829
ExAC: 2:189856977 T / C
gnomAD v2: 2-189856977-T-C
gnomAD v3: 2-188992251-T-C
gnomAD v4: 2-188992251-T-C
MyVariant Identifiers: chr2:g.189856977T>C (hg19) chr2:g.188992251T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188992251T>C , CM000664.2:g.188992251T>C GRCh38
NC_000002.11:g.189856977T>C , CM000664.1:g.189856977T>C GRCh37
NC_000002.10:g.189565222T>C NCBI36
NG_007404.1:g.22879T>C , LRG_3:g.22879T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.996+23T>C ENSP00000415346.2:n.996+23T>C
ENST00000304636.9:c.996+23T>C MANE Select ENSP00000304408.4:n.996+23T>C
ENST00000304636.7:c.996+23T>C ENSP00000304408.3:n.996+23T>C
ENST00000317840.9:c.996+23T>C ENSP00000315243.6:n.996+23T>C
ENST00000450867.1:c.94+23T>C
NM_000090.3:c.996+23T>C , LRG_3t1:c.996+23T>C NP_000081.1:n.996+23T>C
NM_000090.4:c.996+23T>C MANE Select NP_000081.2:n.996+23T>C
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