Canonical Allele Identifier: CA388664375
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110826822T>A (hg19) chr13:g.110174475T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174475T>A , CM000675.2:g.110174475T>A GRCh38
NC_000013.10:g.110826822T>A , CM000675.1:g.110826822T>A GRCh37
NC_000013.9:g.109624823T>A NCBI36
NG_011544.2:g.137675A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3377A>T MANE Select ENSP00000364979.4:p.Asp1126Val
ENST00000375820.8:c.3377A>T ENSP00000364979.4:p.Asp1126Val
NM_001845.5:c.3377A>T NP_001836.3:p.Asp1126Val
XM_011521048.1:c.3185A>T XP_011519350.1:p.Asp1062Val
XM_011521048.2:c.3185A>T XP_011519350.1:p.Asp1062Val
NM_001845.6:c.3377A>T MANE Select NP_001836.3:p.Asp1126Val
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