Canonical Allele Identifier: CA2662310031
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs2153503482
gnomAD v4: 2-189003917-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003917T>C , CM000664.2:g.189003917T>C GRCh38
NC_000002.11:g.189868643T>C , CM000664.1:g.189868643T>C GRCh37
NC_000002.10:g.189576888T>C NCBI36
NG_007404.1:g.34545T>C , LRG_3:g.34545T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2563-65T>C ENSP00000415346.2:n.2563-65T>C
ENST00000304636.9:c.2662-65T>C MANE Select ENSP00000304408.4:n.2662-65T>C
ENST00000304636.7:c.2662-65T>C ENSP00000304408.3:n.2662-65T>C
ENST00000317840.9:c.2527+881T>C ENSP00000315243.6:n.2527+881T>C
ENST00000467886.1:n.226T>C
NM_000090.3:c.2662-65T>C , LRG_3t1:c.2662-65T>C NP_000081.1:n.2662-65T>C
NM_000090.4:c.2662-65T>C MANE Select NP_000081.2:n.2662-65T>C
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