Canonical Allele Identifier: CA430406549
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189873688A>G (hg19)

Genomic Alleles

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

Transcript Alleles

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