Canonical Allele Identifier: CA2118734140
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170590C= , CM000675.2:g.110170590C= GRCh38
NC_000013.10:g.110822937C= , CM000675.1:g.110822937C= GRCh37
NC_000013.9:g.109620938C= NCBI36
NG_011544.2:g.141560G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3699G= MANE Select ENSP00000364979.4:p.Gly1233=
ENST00000375820.8:c.3699G= ENSP00000364979.4:p.Gly1233=
NM_001845.5:c.3699G= NP_001836.3:p.Gly1233=
XM_011521048.1:c.3507G= XP_011519350.1:p.Gly1169=
XM_011521048.2:c.3507G= XP_011519350.1:p.Gly1169=
NM_001845.6:c.3699G= MANE Select NP_001836.3:p.Gly1233=