Canonical Allele Identifier: CA538441212
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1171504
ClinVar RCV Id: RCV001524690 RCV001872045
dbSNP Id: rs1466133249
gnomAD v2: 2-189858188-A-G
gnomAD v3: 2-188993462-A-G
gnomAD v4: 2-188993462-A-G
MyVariant Identifiers: chr2:g.189858188A>G (hg19) chr2:g.188993462A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993462A>G , CM000664.2:g.188993462A>G GRCh38
NC_000002.11:g.189858188A>G , CM000664.1:g.189858188A>G GRCh37
NC_000002.10:g.189566433A>G NCBI36
NG_007404.1:g.24090A>G , LRG_3:g.24090A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1050+522A>G ENSP00000415346.2:n.1050+522A>G
ENST00000304636.9:c.1149+3A>G MANE Select ENSP00000304408.4:n.1149+3A>G
ENST00000304636.7:c.1149+3A>G ENSP00000304408.3:n.1149+3A>G
ENST00000317840.9:c.1149+3A>G ENSP00000315243.6:n.1149+3A>G
ENST00000450867.1:c.148+522A>G
NM_000090.3:c.1149+3A>G , LRG_3t1:c.1149+3A>G NP_000081.1:n.1149+3A>G
NM_000090.4:c.1149+3A>G MANE Select NP_000081.2:n.1149+3A>G
Search 100 bp 5'
Search 100 bp 3'