Canonical Allele Identifier: CA2118745096
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110192279G= , CM000675.2:g.110192279G= GRCh38
NC_000013.10:g.110844626G= , CM000675.1:g.110844626G= GRCh37
NC_000013.9:g.109642627G= NCBI36
NG_011544.2:g.119871C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.1471C= MANE Select ENSP00000364979.4:p.Pro491=
ENST00000543140.6:c.1471C= ENSP00000443348.1:p.Pro491=
ENST00000649738.1:n.1601C=
ENST00000375820.8:c.1471C= ENSP00000364979.4:p.Pro491=
ENST00000543140.5:c.1471C= ENSP00000443348.1:p.Pro491=
NM_001303110.1:c.1471C= NP_001290039.1:p.Pro491=
NM_001845.5:c.1471C= NP_001836.3:p.Pro491=
XM_011521048.1:c.1279C= XP_011519350.1:p.Pro427=
XM_011521048.2:c.1279C= XP_011519350.1:p.Pro427=
NM_001845.6:c.1471C= MANE Select NP_001836.3:p.Pro491=
NM_001303110.2:c.1471C= NP_001290039.1:p.Pro491=