Canonical Allele Identifier: CA62557535
Gene: COL3A1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.189004302G>A
GRCh37 chr2:g.189869028G>A
Revel Score:
ENST00000304636 (MANE Select) 0.988
ClinVar RCV:
RCV001949481
ClinVar Variation:
1458349
dbSNP:
121912913
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004302G>A , CM000664.2:g.189004302G>A GRCh38
NC_000002.11:g.189869028G>A , CM000664.1:g.189869028G>A GRCh37
NC_000002.10:g.189577273G>A NCBI36
NG_007404.1:g.34930G>A , LRG_3:g.34930G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2770G>A ENSP00000415346.2:p.Gly924Ser
ENST00000304636.9:c.2869G>A MANE Select ENSP00000304408.4:p.Gly957Ser
ENST00000304636.7:c.2869G>A ENSP00000304408.3:p.Gly957Ser
ENST00000317840.9:c.2527+1266G>A ENSP00000315243.6:n.2527+1266G>A
NM_000090.3:c.2869G>A , LRG_3t1:c.2869G>A NP_000081.1:p.Gly957Ser
NM_000090.4:c.2869G>A MANE Select NP_000081.2:p.Gly957Ser
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