Canonical Allele Identifier: CA430310904
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 919778
ClinVar RCV Id: RCV001178143 RCV002559738
dbSNP Id: rs1321267556
gnomAD v2: 2-189866149-T-G
gnomAD v4: 2-189001423-T-G
MyVariant Identifiers: chr2:g.189866149T>G (hg19) chr2:g.189001423T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189001423T>G , CM000664.2:g.189001423T>G GRCh38
NC_000002.11:g.189866149T>G , CM000664.1:g.189866149T>G GRCh37
NC_000002.10:g.189574394T>G NCBI36
NG_007404.1:g.32051T>G , LRG_3:g.32051T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2211T>G ENSP00000415346.2:p.Pro737=
ENST00000304636.9:c.2310T>G MANE Select ENSP00000304408.4:p.Pro770=
ENST00000304636.7:c.2310T>G ENSP00000304408.3:p.Pro770=
ENST00000317840.9:c.2310T>G ENSP00000315243.6:p.Pro770=
NM_000090.3:c.2310T>G , LRG_3t1:c.2310T>G NP_000081.1:p.Pro770=
NM_000090.4:c.2310T>G MANE Select NP_000081.2:p.Pro770=
Search 100 bp 5'
Search 100 bp 3'