Canonical Allele Identifier: CA430313350
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189007598-A-G
MyVariant Identifiers: chr2:g.189872324A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007598A>G , CM000664.2:g.189007598A>G GRCh38
NC_000002.11:g.189872324A>G , CM000664.1:g.189872324A>G GRCh37
NC_000002.10:g.189580569A>G NCBI36
NG_007404.1:g.38226A>G , LRG_3:g.38226A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3255A>G ENSP00000415346.2:p.Pro1085=
ENST00000304636.9:c.3354A>G MANE Select ENSP00000304408.4:p.Pro1118=
ENST00000304636.7:c.3354A>G ENSP00000304408.3:p.Pro1118=
ENST00000317840.9:c.2528-456A>G ENSP00000315243.6:n.2528-456A>G
NM_000090.3:c.3354A>G , LRG_3t1:c.3354A>G NP_000081.1:p.Pro1118=
NM_000090.4:c.3354A>G MANE Select NP_000081.2:p.Pro1118=
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