Canonical Allele Identifier: CA2118734122
Gene: COL4A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170585T= , CM000675.2:g.110170585T= GRCh38
NC_000013.10:g.110822932T= , CM000675.1:g.110822932T= GRCh37
NC_000013.9:g.109620933T= NCBI36
NG_011544.2:g.141565A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3704A= MANE Select ENSP00000364979.4:p.Lys1235=
ENST00000375820.8:c.3704A= ENSP00000364979.4:p.Lys1235=
NM_001845.5:c.3704A= NP_001836.3:p.Lys1235=
XM_011521048.1:c.3512A= XP_011519350.1:p.Lys1171=
XM_011521048.2:c.3512A= XP_011519350.1:p.Lys1171=
NM_001845.6:c.3704A= MANE Select NP_001836.3:p.Lys1235=
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