Canonical Allele Identifier: CA2118737034
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173913C= , CM000675.2:g.110173913C= GRCh38
NC_000013.10:g.110826260C= , CM000675.1:g.110826260C= GRCh37
NC_000013.9:g.109624261C= NCBI36
NG_011544.2:g.138237G=

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3492G= MANE Select ENSP00000364979.4:p.Glu1164=
ENST00000375820.8:c.3492G= ENSP00000364979.4:p.Glu1164=
NM_001845.5:c.3492G= NP_001836.3:p.Glu1164=
XM_011521048.1:c.3300G= XP_011519350.1:p.Glu1100=
XM_011521048.2:c.3300G= XP_011519350.1:p.Glu1100=
NM_001845.6:c.3492G= MANE Select NP_001836.3:p.Glu1164=