Canonical Allele Identifier: CA62564359
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1590174
ClinVar RCV Id: RCV002119570
dbSNP Id: rs1016578152
gnomAD v3: 2-189010689-T-C
gnomAD v4: 2-189010689-T-C
MyVariant Identifiers: chr2:g.189875415T>C (hg19) chr2:g.189010689T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010689T>C , CM000664.2:g.189010689T>C GRCh38
NC_000002.11:g.189875415T>C , CM000664.1:g.189875415T>C GRCh37
NC_000002.10:g.189583660T>C NCBI36
NG_007404.1:g.41317T>C , LRG_3:g.41317T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3954T>C ENSP00000415346.2:p.Asp1318=
ENST00000304636.9:c.4053T>C MANE Select ENSP00000304408.4:p.Asp1351=
ENST00000304636.7:c.4053T>C ENSP00000304408.3:p.Asp1351=
ENST00000317840.9:c.3144T>C ENSP00000315243.6:p.Asp1048=
ENST00000487010.1:n.1432T>C
NM_000090.3:c.4053T>C , LRG_3t1:c.4053T>C NP_000081.1:p.Asp1351=
NM_000090.4:c.4053T>C MANE Select NP_000081.2:p.Asp1351=
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