Canonical Allele Identifier: CA349844655
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189869088A>T (hg19) chr2:g.189004362A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004362A>T , CM000664.2:g.189004362A>T GRCh38
NC_000002.11:g.189869088A>T , CM000664.1:g.189869088A>T GRCh37
NC_000002.10:g.189577333A>T NCBI36
NG_007404.1:g.34990A>T , LRG_3:g.34990A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2830A>T ENSP00000415346.2:p.Lys944Ter
ENST00000304636.9:c.2929A>T MANE Select ENSP00000304408.4:p.Lys977Ter
ENST00000304636.7:c.2929A>T ENSP00000304408.3:p.Lys977Ter
ENST00000317840.9:c.2527+1326A>T ENSP00000315243.6:n.2527+1326A>T
NM_000090.3:c.2929A>T , LRG_3t1:c.2929A>T NP_000081.1:p.Lys977Ter
NM_000090.4:c.2929A>T MANE Select NP_000081.2:p.Lys977Ter
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