Canonical Allele Identifier: CA076766
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs780423624
ExAC: 2:189853375 T / C
gnomAD v2: 2-189853375-T-C
gnomAD v4: 2-188988649-T-C
MyVariant Identifiers: chr2:g.189853375T>C (hg19) chr2:g.188988649T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188988649T>C , CM000664.2:g.188988649T>C GRCh38
NC_000002.11:g.189853375T>C , CM000664.1:g.189853375T>C GRCh37
NC_000002.10:g.189561620T>C NCBI36
NG_007404.1:g.19277T>C , LRG_3:g.19277T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.636+6T>C ENSP00000415346.2:n.636+6T>C
ENST00000304636.9:c.636+6T>C MANE Select ENSP00000304408.4:n.636+6T>C
ENST00000304636.7:c.636+6T>C ENSP00000304408.3:n.636+6T>C
ENST00000317840.9:c.636+6T>C ENSP00000315243.6:n.636+6T>C
NM_000090.3:c.636+6T>C , LRG_3t1:c.636+6T>C NP_000081.1:n.636+6T>C
NM_000090.4:c.636+6T>C MANE Select NP_000081.2:n.636+6T>C
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