Canonical Allele Identifier: CA538441168
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1327525316
gnomAD v2: 2-189856963-C-A
gnomAD v4: 2-188992237-C-A
MyVariant Identifiers: chr2:g.189856963C>A (hg19) chr2:g.188992237C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188992237C>A , CM000664.2:g.188992237C>A GRCh38
NC_000002.11:g.189856963C>A , CM000664.1:g.189856963C>A GRCh37
NC_000002.10:g.189565208C>A NCBI36
NG_007404.1:g.22865C>A , LRG_3:g.22865C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.996+9C>A ENSP00000415346.2:n.996+9C>A
ENST00000304636.9:c.996+9C>A MANE Select ENSP00000304408.4:n.996+9C>A
ENST00000304636.7:c.996+9C>A ENSP00000304408.3:n.996+9C>A
ENST00000317840.9:c.996+9C>A ENSP00000315243.6:n.996+9C>A
ENST00000450867.1:c.94+9C>A
NM_000090.3:c.996+9C>A , LRG_3t1:c.996+9C>A NP_000081.1:n.996+9C>A
NM_000090.4:c.996+9C>A MANE Select NP_000081.2:n.996+9C>A
Search 100 bp 5'
Search 100 bp 3'