Canonical Allele Identifier: CA388723453
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110192282A>C , CM000675.2:g.110192282A>C GRCh38
NC_000013.10:g.110844629A>C , CM000675.1:g.110844629A>C GRCh37
NC_000013.9:g.109642630A>C NCBI36
NG_011544.2:g.119868T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.1468T>G MANE Select ENSP00000364979.4:p.Phe490Val
ENST00000543140.6:c.1468T>G ENSP00000443348.1:p.Phe490Val
ENST00000649738.1:n.1598T>G
ENST00000375820.8:c.1468T>G ENSP00000364979.4:p.Phe490Val
ENST00000543140.5:c.1468T>G ENSP00000443348.1:p.Phe490Val
NM_001303110.1:c.1468T>G NP_001290039.1:p.Phe490Val
NM_001845.5:c.1468T>G NP_001836.3:p.Phe490Val
XM_011521048.1:c.1276T>G XP_011519350.1:p.Phe426Val
XM_011521048.2:c.1276T>G XP_011519350.1:p.Phe426Val
NM_001845.6:c.1468T>G MANE Select NP_001836.3:p.Phe490Val
NM_001303110.2:c.1468T>G NP_001290039.1:p.Phe490Val