Canonical Allele Identifier: CA2549133446
Gene: COL4A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169949A>T , CM000675.2:g.110169949A>T GRCh38
NC_000013.10:g.110822296A>T , CM000675.1:g.110822296A>T GRCh37
NC_000013.9:g.109620297A>T NCBI36
NG_011544.2:g.142201T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3743-187T>A MANE Select ENSP00000364979.4:n.3743-187T>A
ENST00000375820.8:c.3743-187T>A ENSP00000364979.4:n.3743-187T>A
NM_001845.5:c.3743-187T>A NP_001836.3:n.3743-187T>A
XM_011521048.1:c.3551-187T>A XP_011519350.1:n.3551-187T>A
XM_011521048.2:c.3551-187T>A XP_011519350.1:n.3551-187T>A
NM_001845.6:c.3743-187T>A MANE Select NP_001836.3:n.3743-187T>A
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