Canonical Allele Identifier: CA076704
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs747650774
ExAC: 2:189852839 A / G
gnomAD v2: 2-189852839-A-G
MyVariant Identifiers: chr2:g.189852839A>G (hg19) chr2:g.188988113A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188988113A>G , CM000664.2:g.188988113A>G GRCh38
NC_000002.11:g.189852839A>G , CM000664.1:g.189852839A>G GRCh37
NC_000002.10:g.189561084A>G NCBI36
NG_007404.1:g.18741A>G , LRG_3:g.18741A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.561A>G ENSP00000415346.2:p.Thr187=
ENST00000304636.9:c.561A>G MANE Select ENSP00000304408.4:p.Thr187=
ENST00000304636.7:c.561A>G ENSP00000304408.3:p.Thr187=
ENST00000317840.9:c.561A>G ENSP00000315243.6:p.Thr187=
NM_000090.3:c.561A>G , LRG_3t1:c.561A>G NP_000081.1:p.Thr187=
NM_000090.4:c.561A>G MANE Select NP_000081.2:p.Thr187=
Search 100 bp 5'
Search 100 bp 3'