Canonical Allele Identifier: CA2118732861
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179302C= , CM000675.2:g.110179302C= GRCh38
NC_000013.10:g.110831649C= , CM000675.1:g.110831649C= GRCh37
NC_000013.9:g.109629650C= NCBI36
NG_011544.2:g.132848G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2313G= MANE Select ENSP00000364979.4:p.Ala771=
ENST00000649738.1:n.2443G=
ENST00000375820.8:c.2313G= ENSP00000364979.4:p.Ala771=
NM_001845.5:c.2313G= NP_001836.3:p.Ala771=
XM_011521048.1:c.2121G= XP_011519350.1:p.Ala707=
XM_011521048.2:c.2121G= XP_011519350.1:p.Ala707=
NM_001845.6:c.2313G= MANE Select NP_001836.3:p.Ala771=