Canonical Allele Identifier: CA2118737589
Gene: COL4A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174487A= , CM000675.2:g.110174487A= GRCh38
NC_000013.10:g.110826834A= , CM000675.1:g.110826834A= GRCh37
NC_000013.9:g.109624835A= NCBI36
NG_011544.2:g.137663T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3365T= MANE Select ENSP00000364979.4:p.Leu1122=
ENST00000375820.8:c.3365T= ENSP00000364979.4:p.Leu1122=
NM_001845.5:c.3365T= NP_001836.3:p.Leu1122=
XM_011521048.1:c.3173T= XP_011519350.1:p.Leu1058=
XM_011521048.2:c.3173T= XP_011519350.1:p.Leu1058=
NM_001845.6:c.3365T= MANE Select NP_001836.3:p.Leu1122=
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