Canonical Allele Identifier: CA077098
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1203143
ClinVar RCV Id: RCV001569079
dbSNP Id: rs13395712
ExAC: 2:189856471 C / T
gnomAD v2: 2-189856471-C-T
gnomAD v3: 2-188991745-C-T
gnomAD v4: 2-188991745-C-T
MyVariant Identifiers: chr2:g.189856471C>T (hg19) chr2:g.188991745C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188991745C>T , CM000664.2:g.188991745C>T GRCh38
NC_000002.11:g.189856471C>T , CM000664.1:g.189856471C>T GRCh37
NC_000002.10:g.189564716C>T NCBI36
NG_007404.1:g.22373C>T , LRG_3:g.22373C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.951+23C>T ENSP00000415346.2:n.951+23C>T
ENST00000304636.9:c.951+23C>T MANE Select ENSP00000304408.4:n.951+23C>T
ENST00000304636.7:c.951+23C>T ENSP00000304408.3:n.951+23C>T
ENST00000317840.9:c.951+23C>T ENSP00000315243.6:n.951+23C>T
ENST00000450867.1:c.49+23C>T
NM_000090.3:c.951+23C>T , LRG_3t1:c.951+23C>T NP_000081.1:n.951+23C>T
NM_000090.4:c.951+23C>T MANE Select NP_000081.2:n.951+23C>T
Search 100 bp 5'
Search 100 bp 3'