Canonical Allele Identifier: CA2118732784
Gene: COL4A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179209G= , CM000675.2:g.110179209G= GRCh38
NC_000013.10:g.110831556G= , CM000675.1:g.110831556G= GRCh37
NC_000013.9:g.109629557G= NCBI36
NG_011544.2:g.132941C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2344+62C= MANE Select ENSP00000364979.4:n.2344+62C=
ENST00000649738.1:n.2474+62C=
ENST00000375820.8:c.2344+62C= ENSP00000364979.4:n.2344+62C=
NM_001845.5:c.2344+62C= NP_001836.3:n.2344+62C=
XM_011521048.1:c.2152+62C= XP_011519350.1:n.2152+62C=
XM_011521048.2:c.2152+62C= XP_011519350.1:n.2152+62C=
NM_001845.6:c.2344+62C= MANE Select NP_001836.3:n.2344+62C=
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