Canonical Allele Identifier: CA2118751219
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110205281G= , CM000675.2:g.110205281G= GRCh38
NC_000013.10:g.110857628G= , CM000675.1:g.110857628G= GRCh37
NC_000013.9:g.109655629G= NCBI36
NG_011544.2:g.106869C=

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.957+72C= MANE Select ENSP00000364979.4:n.957+72C=
ENST00000543140.6:c.957+72C= ENSP00000443348.1:n.957+72C=
ENST00000647632.1:n.662C=
ENST00000647797.1:c.836+72C=
ENST00000649738.1:n.1087+72C=
ENST00000375820.8:c.957+72C= ENSP00000364979.4:n.957+72C=
ENST00000543140.5:c.957+72C= ENSP00000443348.1:n.957+72C=
NM_001303110.1:c.957+72C= NP_001290039.1:n.957+72C=
NM_001845.5:c.957+72C= NP_001836.3:n.957+72C=
XM_011521048.1:c.765+72C= XP_011519350.1:n.765+72C=
XM_011521048.2:c.765+72C= XP_011519350.1:n.765+72C=
NM_001845.6:c.957+72C= MANE Select NP_001836.3:n.957+72C=
NM_001303110.2:c.957+72C= NP_001290039.1:n.957+72C=