Canonical Allele Identifier: CA2118737614
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174495G= , CM000675.2:g.110174495G= GRCh38
NC_000013.10:g.110826842G= , CM000675.1:g.110826842G= GRCh37
NC_000013.9:g.109624843G= NCBI36
NG_011544.2:g.137655C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3357C= MANE Select ENSP00000364979.4:p.Asp1119=
ENST00000375820.8:c.3357C= ENSP00000364979.4:p.Asp1119=
NM_001845.5:c.3357C= NP_001836.3:p.Asp1119=
XM_011521048.1:c.3165C= XP_011519350.1:p.Asp1055=
XM_011521048.2:c.3165C= XP_011519350.1:p.Asp1055=
NM_001845.6:c.3357C= MANE Select NP_001836.3:p.Asp1119=