Canonical Allele Identifier: CA2118732748
Gene: COL4A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169670C= , CM000675.2:g.110169670C= GRCh38
NC_000013.10:g.110822017C= , CM000675.1:g.110822017C= GRCh37
NC_000013.9:g.109620018C= NCBI36
NG_011544.2:g.142480G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3835G= MANE Select ENSP00000364979.4:p.Val1279=
ENST00000375820.8:c.3835G= ENSP00000364979.4:p.Val1279=
NM_001845.5:c.3835G= NP_001836.3:p.Val1279=
XM_011521048.1:c.3643G= XP_011519350.1:p.Val1215=
XM_011521048.2:c.3643G= XP_011519350.1:p.Val1215=
NM_001845.6:c.3835G= MANE Select NP_001836.3:p.Val1279=
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