Canonical Allele Identifier: CA349851504
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2775103
ClinVar RCV Id: RCV003528742
dbSNP Id: rs1369983620
gnomAD v2: 2-189859030-A-G
gnomAD v4: 2-188994304-A-G
MyVariant Identifiers: chr2:g.189859030A>G (hg19) chr2:g.188994304A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994304A>G , CM000664.2:g.188994304A>G GRCh38
NC_000002.11:g.189859030A>G , CM000664.1:g.189859030A>G GRCh37
NC_000002.10:g.189567275A>G NCBI36
NG_007404.1:g.24932A>G , LRG_3:g.24932A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1166A>G ENSP00000415346.2:p.Asn389Ser
ENST00000304636.9:c.1265A>G MANE Select ENSP00000304408.4:p.Asn422Ser
ENST00000304636.7:c.1265A>G ENSP00000304408.3:p.Asn422Ser
ENST00000317840.9:c.1265A>G ENSP00000315243.6:p.Asn422Ser
ENST00000450867.1:c.264A>G
NM_000090.3:c.1265A>G , LRG_3t1:c.1265A>G NP_000081.1:p.Asn422Ser
NM_000090.4:c.1265A>G MANE Select NP_000081.2:p.Asn422Ser
Search 100 bp 5'
Search 100 bp 3'