Canonical Allele Identifier: CA2118745022
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110192145G= , CM000675.2:g.110192145G= GRCh38
NC_000013.10:g.110844492G= , CM000675.1:g.110844492G= GRCh37
NC_000013.9:g.109642493G= NCBI36
NG_011544.2:g.120005C=

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.1536+69C= MANE Select ENSP00000364979.4:n.1536+69C=
ENST00000543140.6:c.1536+69C= ENSP00000443348.1:n.1536+69C=
ENST00000649738.1:n.1666+69C=
ENST00000375820.8:c.1536+69C= ENSP00000364979.4:n.1536+69C=
ENST00000543140.5:c.1536+69C= ENSP00000443348.1:n.1536+69C=
NM_001303110.1:c.1536+69C= NP_001290039.1:n.1536+69C=
NM_001845.5:c.1536+69C= NP_001836.3:n.1536+69C=
XM_011521048.1:c.1344+69C= XP_011519350.1:n.1344+69C=
XM_011521048.2:c.1344+69C= XP_011519350.1:n.1344+69C=
NM_001845.6:c.1536+69C= MANE Select NP_001836.3:n.1536+69C=
NM_001303110.2:c.1536+69C= NP_001290039.1:n.1536+69C=