Canonical Allele Identifier: CA538441213
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2910483
ClinVar RCV Id: RCV003634192
dbSNP Id: rs771300189
gnomAD v2: 2-189858196-T-C
gnomAD v3: 2-188993470-T-C
gnomAD v4: 2-188993470-T-C
MyVariant Identifiers: chr2:g.189858196T>C (hg19) chr2:g.188993470T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993470T>C , CM000664.2:g.188993470T>C GRCh38
NC_000002.11:g.189858196T>C , CM000664.1:g.189858196T>C GRCh37
NC_000002.10:g.189566441T>C NCBI36
NG_007404.1:g.24098T>C , LRG_3:g.24098T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1050+530T>C ENSP00000415346.2:n.1050+530T>C
ENST00000304636.9:c.1149+11T>C MANE Select ENSP00000304408.4:n.1149+11T>C
ENST00000304636.7:c.1149+11T>C ENSP00000304408.3:n.1149+11T>C
ENST00000317840.9:c.1149+11T>C ENSP00000315243.6:n.1149+11T>C
ENST00000450867.1:c.148+530T>C
NM_000090.3:c.1149+11T>C , LRG_3t1:c.1149+11T>C NP_000081.1:n.1149+11T>C
NM_000090.4:c.1149+11T>C MANE Select NP_000081.2:n.1149+11T>C
Search 100 bp 5'
Search 100 bp 3'