Canonical Allele Identifier: CA388723450
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110192281A>G , CM000675.2:g.110192281A>G GRCh38
NC_000013.10:g.110844628A>G , CM000675.1:g.110844628A>G GRCh37
NC_000013.9:g.109642629A>G NCBI36
NG_011544.2:g.119869T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.1469T>C MANE Select ENSP00000364979.4:p.Phe490Ser
ENST00000543140.6:c.1469T>C ENSP00000443348.1:p.Phe490Ser
ENST00000649738.1:n.1599T>C
ENST00000375820.8:c.1469T>C ENSP00000364979.4:p.Phe490Ser
ENST00000543140.5:c.1469T>C ENSP00000443348.1:p.Phe490Ser
NM_001303110.1:c.1469T>C NP_001290039.1:p.Phe490Ser
NM_001845.5:c.1469T>C NP_001836.3:p.Phe490Ser
XM_011521048.1:c.1277T>C XP_011519350.1:p.Phe426Ser
XM_011521048.2:c.1277T>C XP_011519350.1:p.Phe426Ser
NM_001845.6:c.1469T>C MANE Select NP_001836.3:p.Phe490Ser
NM_001303110.2:c.1469T>C NP_001290039.1:p.Phe490Ser