Canonical Allele Identifier: CA2118737581
Gene: COL4A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174484G= , CM000675.2:g.110174484G= GRCh38
NC_000013.10:g.110826831G= , CM000675.1:g.110826831G= GRCh37
NC_000013.9:g.109624832G= NCBI36
NG_011544.2:g.137666C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3368C= MANE Select ENSP00000364979.4:p.Pro1123=
ENST00000375820.8:c.3368C= ENSP00000364979.4:p.Pro1123=
NM_001845.5:c.3368C= NP_001836.3:p.Pro1123=
XM_011521048.1:c.3176C= XP_011519350.1:p.Pro1059=
XM_011521048.2:c.3176C= XP_011519350.1:p.Pro1059=
NM_001845.6:c.3368C= MANE Select NP_001836.3:p.Pro1123=
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