Canonical Allele Identifier: CA388661782
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169679C>G , CM000675.2:g.110169679C>G GRCh38
NC_000013.10:g.110822026C>G , CM000675.1:g.110822026C>G GRCh37
NC_000013.9:g.109620027C>G NCBI36
NG_011544.2:g.142471G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3826G>C MANE Select ENSP00000364979.4:p.Ala1276Pro
ENST00000375820.8:c.3826G>C ENSP00000364979.4:p.Ala1276Pro
NM_001845.5:c.3826G>C NP_001836.3:p.Ala1276Pro
XM_011521048.1:c.3634G>C XP_011519350.1:p.Ala1212Pro
XM_011521048.2:c.3634G>C XP_011519350.1:p.Ala1212Pro
NM_001845.6:c.3826G>C MANE Select NP_001836.3:p.Ala1276Pro