Canonical Allele Identifier: CA2118732288
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169238A= , CM000675.2:g.110169238A= GRCh38
NC_000013.10:g.110821585A= , CM000675.1:g.110821585A= GRCh37
NC_000013.9:g.109619586A= NCBI36
NG_011544.2:g.142912T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3876+391T= MANE Select ENSP00000364979.4:n.3876+391T=
ENST00000650424.1:c.32+391T=
ENST00000375820.8:c.3876+391T= ENSP00000364979.4:n.3876+391T=
NM_001845.5:c.3876+391T= NP_001836.3:n.3876+391T=
XM_011521048.1:c.3684+391T= XP_011519350.1:n.3684+391T=
XM_011521048.2:c.3684+391T= XP_011519350.1:n.3684+391T=
NM_001845.6:c.3876+391T= MANE Select NP_001836.3:n.3876+391T=