Canonical Allele Identifier: CA388661677
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169630G>T , CM000675.2:g.110169630G>T GRCh38
NC_000013.10:g.110821977G>T , CM000675.1:g.110821977G>T GRCh37
NC_000013.9:g.109619978G>T NCBI36
NG_011544.2:g.142520C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3875C>A MANE Select ENSP00000364979.4:p.Pro1292His
ENST00000650424.1:c.31C>A
ENST00000375820.8:c.3875C>A ENSP00000364979.4:p.Pro1292His
NM_001845.5:c.3875C>A NP_001836.3:p.Pro1292His
XM_011521048.1:c.3683C>A XP_011519350.1:p.Pro1228His
XM_011521048.2:c.3683C>A XP_011519350.1:p.Pro1228His
NM_001845.6:c.3875C>A MANE Select NP_001836.3:p.Pro1292His