Canonical Allele Identifier: CA2118732315
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169281C= , CM000675.2:g.110169281C= GRCh38
NC_000013.10:g.110821628C= , CM000675.1:g.110821628C= GRCh37
NC_000013.9:g.109619629C= NCBI36
NG_011544.2:g.142869G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+348G= MANE Select ENSP00000364979.4:n.3876+348G=
ENST00000650424.1:c.32+348G=
ENST00000375820.8:c.3876+348G= ENSP00000364979.4:n.3876+348G=
NM_001845.5:c.3876+348G= NP_001836.3:n.3876+348G=
XM_011521048.1:c.3684+348G= XP_011519350.1:n.3684+348G=
XM_011521048.2:c.3684+348G= XP_011519350.1:n.3684+348G=
NM_001845.6:c.3876+348G= MANE Select NP_001836.3:n.3876+348G=