Canonical Allele Identifier: CA388660681
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110166285C>G , CM000675.2:g.110166285C>G GRCh38
NC_000013.10:g.110818632C>G , CM000675.1:g.110818632C>G GRCh37
NC_000013.9:g.109616633C>G NCBI36
NG_011544.2:g.145865G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3968G>C MANE Select ENSP00000364979.4:p.Gly1323Ala
ENST00000650424.1:c.124G>C
ENST00000375820.8:c.3968G>C ENSP00000364979.4:p.Gly1323Ala
NM_001845.5:c.3968G>C NP_001836.3:p.Gly1323Ala
XM_011521048.1:c.3776G>C XP_011519350.1:p.Gly1259Ala
XM_011521048.2:c.3776G>C XP_011519350.1:p.Gly1259Ala
NM_001845.6:c.3968G>C MANE Select NP_001836.3:p.Gly1323Ala