Canonical Allele Identifier: CA2118751202
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110205237G= , CM000675.2:g.110205237G= GRCh38
NC_000013.10:g.110857584G= , CM000675.1:g.110857584G= GRCh37
NC_000013.9:g.109655585G= NCBI36
NG_011544.2:g.106913C=

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.957+116C= MANE Select ENSP00000364979.4:n.957+116C=
ENST00000543140.6:c.957+116C= ENSP00000443348.1:n.957+116C=
ENST00000647632.1:n.706C=
ENST00000647797.1:c.836+116C=
ENST00000649738.1:n.1087+116C=
ENST00000375820.8:c.957+116C= ENSP00000364979.4:n.957+116C=
ENST00000543140.5:c.957+116C= ENSP00000443348.1:n.957+116C=
NM_001303110.1:c.957+116C= NP_001290039.1:n.957+116C=
NM_001845.5:c.957+116C= NP_001836.3:n.957+116C=
XM_011521048.1:c.765+116C= XP_011519350.1:n.765+116C=
XM_011521048.2:c.765+116C= XP_011519350.1:n.765+116C=
NM_001845.6:c.957+116C= MANE Select NP_001836.3:n.957+116C=
NM_001303110.2:c.957+116C= NP_001290039.1:n.957+116C=