Canonical Allele Identifier: CA388661707
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169642A>G , CM000675.2:g.110169642A>G GRCh38
NC_000013.10:g.110821989A>G , CM000675.1:g.110821989A>G GRCh37
NC_000013.9:g.109619990A>G NCBI36
NG_011544.2:g.142508T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3863T>C MANE Select ENSP00000364979.4:p.Phe1288Ser
ENST00000650424.1:c.19T>C
ENST00000375820.8:c.3863T>C ENSP00000364979.4:p.Phe1288Ser
NM_001845.5:c.3863T>C NP_001836.3:p.Phe1288Ser
XM_011521048.1:c.3671T>C XP_011519350.1:p.Phe1224Ser
XM_011521048.2:c.3671T>C XP_011519350.1:p.Phe1224Ser
NM_001845.6:c.3863T>C MANE Select NP_001836.3:p.Phe1288Ser