Canonical Allele Identifier: CA349848847
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2855050
ClinVar RCV Id: RCV003635342
gnomAD v4: 2-188989435-C-T
MyVariant Identifiers: chr2:g.189854161C>T (hg19) chr2:g.188989435C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188989435C>T , CM000664.2:g.188989435C>T GRCh38
NC_000002.11:g.189854161C>T , CM000664.1:g.189854161C>T GRCh37
NC_000002.10:g.189562406C>T NCBI36
NG_007404.1:g.20063C>T , LRG_3:g.20063C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.676C>T ENSP00000415346.2:p.Pro226Ser
ENST00000304636.9:c.676C>T MANE Select ENSP00000304408.4:p.Pro226Ser
ENST00000304636.7:c.676C>T ENSP00000304408.3:p.Pro226Ser
ENST00000317840.9:c.676C>T ENSP00000315243.6:p.Pro226Ser
NM_000090.3:c.676C>T , LRG_3t1:c.676C>T NP_000081.1:p.Pro226Ser
NM_000090.4:c.676C>T MANE Select NP_000081.2:p.Pro226Ser
Search 100 bp 5'
Search 100 bp 3'