Canonical Allele Identifier: CA388664374
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110826821A>C (hg19) chr13:g.110174474A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174474A>C , CM000675.2:g.110174474A>C GRCh38
NC_000013.10:g.110826821A>C , CM000675.1:g.110826821A>C GRCh37
NC_000013.9:g.109624822A>C NCBI36
NG_011544.2:g.137676T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3378T>G MANE Select ENSP00000364979.4:p.Asp1126Glu
ENST00000375820.8:c.3378T>G ENSP00000364979.4:p.Asp1126Glu
NM_001845.5:c.3378T>G NP_001836.3:p.Asp1126Glu
XM_011521048.1:c.3186T>G XP_011519350.1:p.Asp1062Glu
XM_011521048.2:c.3186T>G XP_011519350.1:p.Asp1062Glu
NM_001845.6:c.3378T>G MANE Select NP_001836.3:p.Asp1126Glu
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