Canonical Allele Identifier: CA388664418
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110174495G>C , CM000675.2:g.110174495G>C GRCh38
NC_000013.10:g.110826842G>C , CM000675.1:g.110826842G>C GRCh37
NC_000013.9:g.109624843G>C NCBI36
NG_011544.2:g.137655C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3357C>G MANE Select ENSP00000364979.4:p.Asp1119Glu
ENST00000375820.8:c.3357C>G ENSP00000364979.4:p.Asp1119Glu
NM_001845.5:c.3357C>G NP_001836.3:p.Asp1119Glu
XM_011521048.1:c.3165C>G XP_011519350.1:p.Asp1055Glu
XM_011521048.2:c.3165C>G XP_011519350.1:p.Asp1055Glu
NM_001845.6:c.3357C>G MANE Select NP_001836.3:p.Asp1119Glu