Canonical Allele Identifier: CA430406548
Gene: COL3A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189008962-A-C
MyVariant Identifiers: chr2:g.189873688A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189008962A>C , CM000664.2:g.189008962A>C GRCh38
NC_000002.11:g.189873688A>C , CM000664.1:g.189873688A>C GRCh37
NC_000002.10:g.189581933A>C NCBI36
NG_007404.1:g.39590A>C , LRG_3:g.39590A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3465A>C ENSP00000415346.2:p.Gly1155=
ENST00000304636.9:c.3564A>C MANE Select ENSP00000304408.4:p.Gly1188=
ENST00000304636.7:c.3564A>C ENSP00000304408.3:p.Gly1188=
ENST00000317840.9:c.2655A>C ENSP00000315243.6:p.Gly885=
ENST00000487010.1:n.661A>C
NM_000090.3:c.3564A>C , LRG_3t1:c.3564A>C NP_000081.1:p.Gly1188=
NM_000090.4:c.3564A>C MANE Select NP_000081.2:p.Gly1188=
Search 100 bp 5'
Search 100 bp 3'