Canonical Allele Identifier: CA62589758
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 675785
ClinVar RCV Id: RCV000835161
dbSNP Id: rs12619321
gnomAD v2: 2-189854337-A-G
gnomAD v3: 2-188989611-A-G
gnomAD v4: 2-188989611-A-G
MyVariant Identifiers: chr2:g.189854337A>G (hg19) chr2:g.188989611A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188989611A>G , CM000664.2:g.188989611A>G GRCh38
NC_000002.11:g.189854337A>G , CM000664.1:g.189854337A>G GRCh37
NC_000002.10:g.189562582A>G NCBI36
NG_007404.1:g.20239A>G , LRG_3:g.20239A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.690+162A>G ENSP00000415346.2:n.690+162A>G
ENST00000304636.9:c.690+162A>G MANE Select ENSP00000304408.4:n.690+162A>G
ENST00000304636.7:c.690+162A>G ENSP00000304408.3:n.690+162A>G
ENST00000317840.9:c.690+162A>G ENSP00000315243.6:n.690+162A>G
NM_000090.3:c.690+162A>G , LRG_3t1:c.690+162A>G NP_000081.1:n.690+162A>G
NM_000090.4:c.690+162A>G MANE Select NP_000081.2:n.690+162A>G
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