Canonical Allele Identifier: CA349849230
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189010681-G-A
MyVariant Identifiers: chr2:g.189875407G>A (hg19) chr2:g.189010681G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010681G>A , CM000664.2:g.189010681G>A GRCh38
NC_000002.11:g.189875407G>A , CM000664.1:g.189875407G>A GRCh37
NC_000002.10:g.189583652G>A NCBI36
NG_007404.1:g.41309G>A , LRG_3:g.41309G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3946G>A ENSP00000415346.2:p.Val1316Ile
ENST00000304636.9:c.4045G>A MANE Select ENSP00000304408.4:p.Val1349Ile
ENST00000304636.7:c.4045G>A ENSP00000304408.3:p.Val1349Ile
ENST00000317840.9:c.3136G>A ENSP00000315243.6:p.Val1046Ile
ENST00000487010.1:n.1424G>A
NM_000090.3:c.4045G>A , LRG_3t1:c.4045G>A NP_000081.1:p.Val1349Ile
NM_000090.4:c.4045G>A MANE Select NP_000081.2:p.Val1349Ile
Search 100 bp 5'
Search 100 bp 3'