Canonical Allele Identifier: CA430442221
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189875412T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010686T>A , CM000664.2:g.189010686T>A GRCh38
NC_000002.11:g.189875412T>A , CM000664.1:g.189875412T>A GRCh37
NC_000002.10:g.189583657T>A NCBI36
NG_007404.1:g.41314T>A , LRG_3:g.41314T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3951T>A ENSP00000415346.2:p.Leu1317=
ENST00000304636.9:c.4050T>A MANE Select ENSP00000304408.4:p.Leu1350=
ENST00000304636.7:c.4050T>A ENSP00000304408.3:p.Leu1350=
ENST00000317840.9:c.3141T>A ENSP00000315243.6:p.Leu1047=
ENST00000487010.1:n.1429T>A
NM_000090.3:c.4050T>A , LRG_3t1:c.4050T>A NP_000081.1:p.Leu1350=
NM_000090.4:c.4050T>A MANE Select NP_000081.2:p.Leu1350=
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