Canonical Allele Identifier: CA349849487
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 928381
ClinVar RCV Id: RCV001192241
dbSNP Id: rs1029608155
gnomAD v2: 2-189875505-G-C
gnomAD v4: 2-189010779-G-C
MyVariant Identifiers: chr2:g.189875505G>C (hg19) chr2:g.189010779G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010779G>C , CM000664.2:g.189010779G>C GRCh38
NC_000002.11:g.189875505G>C , CM000664.1:g.189875505G>C GRCh37
NC_000002.10:g.189583750G>C NCBI36
NG_007404.1:g.41407G>C , LRG_3:g.41407G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.4044G>C ENSP00000415346.2:p.Gln1348His
ENST00000304636.9:c.4143G>C MANE Select ENSP00000304408.4:p.Gln1381His
ENST00000304636.7:c.4143G>C ENSP00000304408.3:p.Gln1381His
ENST00000317840.9:c.3234G>C ENSP00000315243.6:p.Gln1078His
ENST00000487010.1:n.1522G>C
NM_000090.3:c.4143G>C , LRG_3t1:c.4143G>C NP_000081.1:p.Gln1381His
NM_000090.4:c.4143G>C MANE Select NP_000081.2:p.Gln1381His
Search 100 bp 5'
Search 100 bp 3'