Canonical Allele Identifier: CA075571
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459777
ClinVar RCV Id: RCV000536982 RCV003302801
dbSNP Id: rs138961881
ExAC: 2:189868779 T / C
gnomAD v2: 2-189868779-T-C
gnomAD v3: 2-189004053-T-C
gnomAD v4: 2-189004053-T-C
MyVariant Identifiers: chr2:g.189868779T>C (hg19) chr2:g.189004053T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004053T>C , CM000664.2:g.189004053T>C GRCh38
NC_000002.11:g.189868779T>C , CM000664.1:g.189868779T>C GRCh37
NC_000002.10:g.189577024T>C NCBI36
NG_007404.1:g.34681T>C , LRG_3:g.34681T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2634T>C ENSP00000415346.2:p.Thr878=
ENST00000304636.9:c.2733T>C MANE Select ENSP00000304408.4:p.Thr911=
ENST00000304636.7:c.2733T>C ENSP00000304408.3:p.Thr911=
ENST00000317840.9:c.2527+1017T>C ENSP00000315243.6:n.2527+1017T>C
NM_000090.3:c.2733T>C , LRG_3t1:c.2733T>C NP_000081.1:p.Thr911=
NM_000090.4:c.2733T>C MANE Select NP_000081.2:p.Thr911=
Search 100 bp 5'
Search 100 bp 3'