Canonical Allele Identifier: CA388661725
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169651T>A , CM000675.2:g.110169651T>A GRCh38
NC_000013.10:g.110821998T>A , CM000675.1:g.110821998T>A GRCh37
NC_000013.9:g.109619999T>A NCBI36
NG_011544.2:g.142499A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3854A>T MANE Select ENSP00000364979.4:p.Asp1285Val
ENST00000650424.1:c.10A>T
ENST00000375820.8:c.3854A>T ENSP00000364979.4:p.Asp1285Val
NM_001845.5:c.3854A>T NP_001836.3:p.Asp1285Val
XM_011521048.1:c.3662A>T XP_011519350.1:p.Asp1221Val
XM_011521048.2:c.3662A>T XP_011519350.1:p.Asp1221Val
NM_001845.6:c.3854A>T MANE Select NP_001836.3:p.Asp1285Val