Canonical Allele Identifier: CA075568
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs757462397
ExAC: 2:189868778 C / G
gnomAD v2: 2-189868778-C-G
gnomAD v4: 2-189004052-C-G
MyVariant Identifiers: chr2:g.189868778C>G (hg19) chr2:g.189004052C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004052C>G , CM000664.2:g.189004052C>G GRCh38
NC_000002.11:g.189868778C>G , CM000664.1:g.189868778C>G GRCh37
NC_000002.10:g.189577023C>G NCBI36
NG_007404.1:g.34680C>G , LRG_3:g.34680C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2633C>G ENSP00000415346.2:p.Thr878Ser
ENST00000304636.9:c.2732C>G MANE Select ENSP00000304408.4:p.Thr911Ser
ENST00000304636.7:c.2732C>G ENSP00000304408.3:p.Thr911Ser
ENST00000317840.9:c.2527+1016C>G ENSP00000315243.6:n.2527+1016C>G
NM_000090.3:c.2732C>G , LRG_3t1:c.2732C>G NP_000081.1:p.Thr911Ser
NM_000090.4:c.2732C>G MANE Select NP_000081.2:p.Thr911Ser
Search 100 bp 5'
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