Canonical Allele Identifier: CA388664131
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110826261T>G (hg19) chr13:g.110173914T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173914T>G , CM000675.2:g.110173914T>G GRCh38
NC_000013.10:g.110826261T>G , CM000675.1:g.110826261T>G GRCh37
NC_000013.9:g.109624262T>G NCBI36
NG_011544.2:g.138236A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3491A>C MANE Select ENSP00000364979.4:p.Glu1164Ala
ENST00000375820.8:c.3491A>C ENSP00000364979.4:p.Glu1164Ala
NM_001845.5:c.3491A>C NP_001836.3:p.Glu1164Ala
XM_011521048.1:c.3299A>C XP_011519350.1:p.Glu1100Ala
XM_011521048.2:c.3299A>C XP_011519350.1:p.Glu1100Ala
NM_001845.6:c.3491A>C MANE Select NP_001836.3:p.Glu1164Ala
Search 100 bp 5'
Search 100 bp 3'