Canonical Allele Identifier: CA62597203
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs560761781
gnomAD v3: 2-188996030-T-C
gnomAD v4: 2-188996030-T-C
MyVariant Identifiers: chr2:g.189860756T>C (hg19) chr2:g.188996030T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188996030T>C , CM000664.2:g.188996030T>C GRCh38
NC_000002.11:g.189860756T>C , CM000664.1:g.189860756T>C GRCh37
NC_000002.10:g.189569001T>C NCBI36
NG_007404.1:g.26658T>C , LRG_3:g.26658T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1510-95T>C ENSP00000415346.2:n.1510-95T>C
ENST00000304636.9:c.1609-95T>C MANE Select ENSP00000304408.4:n.1609-95T>C
ENST00000304636.7:c.1609-95T>C ENSP00000304408.3:n.1609-95T>C
ENST00000317840.9:c.1609-95T>C ENSP00000315243.6:n.1609-95T>C
NM_000090.3:c.1609-95T>C , LRG_3t1:c.1609-95T>C NP_000081.1:n.1609-95T>C
NM_000090.4:c.1609-95T>C MANE Select NP_000081.2:n.1609-95T>C
Search 100 bp 5'
Search 100 bp 3'