Canonical Allele Identifier: CA538441157
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1426852683
gnomAD v2: 2-189856744-A-T
gnomAD v3: 2-188992018-A-T
gnomAD v4: 2-188992018-A-T
MyVariant Identifiers: chr2:g.189856744A>T (hg19) chr2:g.188992018A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188992018A>T , CM000664.2:g.188992018A>T GRCh38
NC_000002.11:g.189856744A>T , CM000664.1:g.189856744A>T GRCh37
NC_000002.10:g.189564989A>T NCBI36
NG_007404.1:g.22646A>T , LRG_3:g.22646A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.952-166A>T ENSP00000415346.2:n.952-166A>T
ENST00000304636.9:c.952-166A>T MANE Select ENSP00000304408.4:n.952-166A>T
ENST00000304636.7:c.952-166A>T ENSP00000304408.3:n.952-166A>T
ENST00000317840.9:c.952-166A>T ENSP00000315243.6:n.952-166A>T
ENST00000450867.1:c.50-166A>T
NM_000090.3:c.952-166A>T , LRG_3t1:c.952-166A>T NP_000081.1:n.952-166A>T
NM_000090.4:c.952-166A>T MANE Select NP_000081.2:n.952-166A>T
Search 100 bp 5'
Search 100 bp 3'