Canonical Allele Identifier: CA006135
Gene: COL3A1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.189006400G>A
GRCh37 chr2:g.189871126G>A
Revel Score:
ENST00000304636 (MANE Select) 0.997
ClinVar RCV:
RCV000018741
ClinVar Variation:
17201
dbSNP:
121912914
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189006400G>A , CM000664.2:g.189006400G>A GRCh38
NC_000002.11:g.189871126G>A , CM000664.1:g.189871126G>A GRCh37
NC_000002.10:g.189579371G>A NCBI36
NG_007404.1:g.37028G>A , LRG_3:g.37028G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3050G>A ENSP00000415346.2:p.Gly1017Asp
ENST00000304636.9:c.3149G>A MANE Select ENSP00000304408.4:p.Gly1050Asp
ENST00000304636.7:c.3149G>A ENSP00000304408.3:p.Gly1050Asp
ENST00000317840.9:c.2528-1654G>A ENSP00000315243.6:n.2528-1654G>A
NM_000090.3:c.3149G>A , LRG_3t1:c.3149G>A NP_000081.1:p.Gly1050Asp
NM_000090.4:c.3149G>A MANE Select NP_000081.2:p.Gly1050Asp
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