Canonical Allele Identifier: CA430311844
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189868716A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003990A>C , CM000664.2:g.189003990A>C GRCh38
NC_000002.11:g.189868716A>C , CM000664.1:g.189868716A>C GRCh37
NC_000002.10:g.189576961A>C NCBI36
NG_007404.1:g.34618A>C , LRG_3:g.34618A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2571A>C ENSP00000415346.2:p.Pro857=
ENST00000304636.9:c.2670A>C MANE Select ENSP00000304408.4:p.Pro890=
ENST00000304636.7:c.2670A>C ENSP00000304408.3:p.Pro890=
ENST00000317840.9:c.2527+954A>C ENSP00000315243.6:n.2527+954A>C
NM_000090.3:c.2670A>C , LRG_3t1:c.2670A>C NP_000081.1:p.Pro890=
NM_000090.4:c.2670A>C MANE Select NP_000081.2:p.Pro890=