Canonical Allele Identifier: CA388668625
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110831668A>T (hg19) chr13:g.110179321A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179321A>T , CM000675.2:g.110179321A>T GRCh38
NC_000013.10:g.110831668A>T , CM000675.1:g.110831668A>T GRCh37
NC_000013.9:g.109629669A>T NCBI36
NG_011544.2:g.132829T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2294T>A MANE Select ENSP00000364979.4:p.Val765Asp
ENST00000649738.1:n.2424T>A
ENST00000375820.8:c.2294T>A ENSP00000364979.4:p.Val765Asp
NM_001845.5:c.2294T>A NP_001836.3:p.Val765Asp
XM_011521048.1:c.2102T>A XP_011519350.1:p.Val701Asp
XM_011521048.2:c.2102T>A XP_011519350.1:p.Val701Asp
NM_001845.6:c.2294T>A MANE Select NP_001836.3:p.Val765Asp
Search 100 bp 5'
Search 100 bp 3'