Canonical Allele Identifier: CA388661690
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169636C>T , CM000675.2:g.110169636C>T GRCh38
NC_000013.10:g.110821983C>T , CM000675.1:g.110821983C>T GRCh37
NC_000013.9:g.109619984C>T NCBI36
NG_011544.2:g.142514G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3869G>A MANE Select ENSP00000364979.4:p.Gly1290Asp
ENST00000650424.1:c.25G>A
ENST00000375820.8:c.3869G>A ENSP00000364979.4:p.Gly1290Asp
NM_001845.5:c.3869G>A NP_001836.3:p.Gly1290Asp
XM_011521048.1:c.3677G>A XP_011519350.1:p.Gly1226Asp
XM_011521048.2:c.3677G>A XP_011519350.1:p.Gly1226Asp
NM_001845.6:c.3869G>A MANE Select NP_001836.3:p.Gly1290Asp