Canonical Allele Identifier: CA2118732730
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169650G= , CM000675.2:g.110169650G= GRCh38
NC_000013.10:g.110821997G= , CM000675.1:g.110821997G= GRCh37
NC_000013.9:g.109619998G= NCBI36
NG_011544.2:g.142500C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3855C= MANE Select ENSP00000364979.4:p.Asp1285=
ENST00000650424.1:c.11C=
ENST00000375820.8:c.3855C= ENSP00000364979.4:p.Asp1285=
NM_001845.5:c.3855C= NP_001836.3:p.Asp1285=
XM_011521048.1:c.3663C= XP_011519350.1:p.Asp1221=
XM_011521048.2:c.3663C= XP_011519350.1:p.Asp1221=
NM_001845.6:c.3855C= MANE Select NP_001836.3:p.Asp1285=