Canonical Allele Identifier: CA430310559
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189864082T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188999356T>G , CM000664.2:g.188999356T>G GRCh38
NC_000002.11:g.189864082T>G , CM000664.1:g.189864082T>G GRCh37
NC_000002.10:g.189572327T>G NCBI36
NG_007404.1:g.29984T>G , LRG_3:g.29984T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1995T>G ENSP00000415346.2:p.Ala665=
ENST00000304636.9:c.2094T>G MANE Select ENSP00000304408.4:p.Ala698=
ENST00000304636.7:c.2094T>G ENSP00000304408.3:p.Ala698=
ENST00000317840.9:c.2094T>G ENSP00000315243.6:p.Ala698=
NM_000090.3:c.2094T>G , LRG_3t1:c.2094T>G NP_000081.1:p.Ala698=
NM_000090.4:c.2094T>G MANE Select NP_000081.2:p.Ala698=
Search 100 bp 5'
Search 100 bp 3'