Canonical Allele Identifier: CA349849257
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1702199
ClinVar RCV Id: RCV002277986
dbSNP Id: rs1294762739
gnomAD v3: 2-189010685-T-C
gnomAD v4: 2-189010685-T-C
MyVariant Identifiers: chr2:g.189875411T>C (hg19) chr2:g.189010685T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010685T>C , CM000664.2:g.189010685T>C GRCh38
NC_000002.11:g.189875411T>C , CM000664.1:g.189875411T>C GRCh37
NC_000002.10:g.189583656T>C NCBI36
NG_007404.1:g.41313T>C , LRG_3:g.41313T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3950T>C ENSP00000415346.2:p.Leu1317Pro
ENST00000304636.9:c.4049T>C MANE Select ENSP00000304408.4:p.Leu1350Pro
ENST00000304636.7:c.4049T>C ENSP00000304408.3:p.Leu1350Pro
ENST00000317840.9:c.3140T>C ENSP00000315243.6:p.Leu1047Pro
ENST00000487010.1:n.1428T>C
NM_000090.3:c.4049T>C , LRG_3t1:c.4049T>C NP_000081.1:p.Leu1350Pro
NM_000090.4:c.4049T>C MANE Select NP_000081.2:p.Leu1350Pro
Search 100 bp 5'
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