Canonical Allele Identifier: CA2118736871
Gene: COL4A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173781G= , CM000675.2:g.110173781G= GRCh38
NC_000013.10:g.110826128G= , CM000675.1:g.110826128G= GRCh37
NC_000013.9:g.109624129G= NCBI36
NG_011544.2:g.138369C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3505+119C= MANE Select ENSP00000364979.4:n.3505+119C=
ENST00000375820.8:c.3505+119C= ENSP00000364979.4:n.3505+119C=
NM_001845.5:c.3505+119C= NP_001836.3:n.3505+119C=
XM_011521048.1:c.3313+119C= XP_011519350.1:n.3313+119C=
XM_011521048.2:c.3313+119C= XP_011519350.1:n.3313+119C=
NM_001845.6:c.3505+119C= MANE Select NP_001836.3:n.3505+119C=
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