Canonical Allele Identifier: CA2562437963
Gene: COL4A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110192308G>T , CM000675.2:g.110192308G>T GRCh38
NC_000013.10:g.110844655G>T , CM000675.1:g.110844655G>T GRCh37
NC_000013.9:g.109642656G>T NCBI36
NG_011544.2:g.119842C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.1466-24C>A MANE Select ENSP00000364979.4:n.1466-24C>A
ENST00000543140.6:c.1466-24C>A ENSP00000443348.1:n.1466-24C>A
ENST00000649738.1:n.1596-24C>A
ENST00000375820.8:c.1466-24C>A ENSP00000364979.4:n.1466-24C>A
ENST00000543140.5:c.1466-24C>A ENSP00000443348.1:n.1466-24C>A
NM_001303110.1:c.1466-24C>A NP_001290039.1:n.1466-24C>A
NM_001845.5:c.1466-24C>A NP_001836.3:n.1466-24C>A
XM_011521048.1:c.1274-24C>A XP_011519350.1:n.1274-24C>A
XM_011521048.2:c.1274-24C>A XP_011519350.1:n.1274-24C>A
NM_001845.6:c.1466-24C>A MANE Select NP_001836.3:n.1466-24C>A
NM_001303110.2:c.1466-24C>A NP_001290039.1:n.1466-24C>A
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