Canonical Allele Identifier: CA430442281
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189875508C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010782C>T , CM000664.2:g.189010782C>T GRCh38
NC_000002.11:g.189875508C>T , CM000664.1:g.189875508C>T GRCh37
NC_000002.10:g.189583753C>T NCBI36
NG_007404.1:g.41410C>T , LRG_3:g.41410C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.4047C>T ENSP00000415346.2:p.Ala1349=
ENST00000304636.9:c.4146C>T MANE Select ENSP00000304408.4:p.Ala1382=
ENST00000304636.7:c.4146C>T ENSP00000304408.3:p.Ala1382=
ENST00000317840.9:c.3237C>T ENSP00000315243.6:p.Ala1079=
ENST00000487010.1:n.1525C>T
NM_000090.3:c.4146C>T , LRG_3t1:c.4146C>T NP_000081.1:p.Ala1382=
NM_000090.4:c.4146C>T MANE Select NP_000081.2:p.Ala1382=
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