Canonical Allele Identifier: CA538441020
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2165701
ClinVar RCV Id: RCV003084504
dbSNP Id: rs1356667369
gnomAD v2: 2-189853380-A-G
gnomAD v3: 2-188988654-A-G
gnomAD v4: 2-188988654-A-G
MyVariant Identifiers: chr2:g.189853380A>G (hg19) chr2:g.188988654A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188988654A>G , CM000664.2:g.188988654A>G GRCh38
NC_000002.11:g.189853380A>G , CM000664.1:g.189853380A>G GRCh37
NC_000002.10:g.189561625A>G NCBI36
NG_007404.1:g.19282A>G , LRG_3:g.19282A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.636+11A>G ENSP00000415346.2:n.636+11A>G
ENST00000304636.9:c.636+11A>G MANE Select ENSP00000304408.4:n.636+11A>G
ENST00000304636.7:c.636+11A>G ENSP00000304408.3:n.636+11A>G
ENST00000317840.9:c.636+11A>G ENSP00000315243.6:n.636+11A>G
NM_000090.3:c.636+11A>G , LRG_3t1:c.636+11A>G NP_000081.1:n.636+11A>G
NM_000090.4:c.636+11A>G MANE Select NP_000081.2:n.636+11A>G
Search 100 bp 5'
Search 100 bp 3'