Canonical Allele Identifier: CA388661710
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110821990A>G (hg19) chr13:g.110169643A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169643A>G , CM000675.2:g.110169643A>G GRCh38
NC_000013.10:g.110821990A>G , CM000675.1:g.110821990A>G GRCh37
NC_000013.9:g.109619991A>G NCBI36
NG_011544.2:g.142507T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3862T>C MANE Select ENSP00000364979.4:p.Phe1288Leu
ENST00000650424.1:c.18T>C
ENST00000375820.8:c.3862T>C ENSP00000364979.4:p.Phe1288Leu
NM_001845.5:c.3862T>C NP_001836.3:p.Phe1288Leu
XM_011521048.1:c.3670T>C XP_011519350.1:p.Phe1224Leu
XM_011521048.2:c.3670T>C XP_011519350.1:p.Phe1224Leu
NM_001845.6:c.3862T>C MANE Select NP_001836.3:p.Phe1288Leu
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