Canonical Allele Identifier: CA388661786
Gene: COL4A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169681C>G , CM000675.2:g.110169681C>G GRCh38
NC_000013.10:g.110822028C>G , CM000675.1:g.110822028C>G GRCh37
NC_000013.9:g.109620029C>G NCBI36
NG_011544.2:g.142469G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3824G>C MANE Select ENSP00000364979.4:p.Gly1275Ala
ENST00000375820.8:c.3824G>C ENSP00000364979.4:p.Gly1275Ala
NM_001845.5:c.3824G>C NP_001836.3:p.Gly1275Ala
XM_011521048.1:c.3632G>C XP_011519350.1:p.Gly1211Ala
XM_011521048.2:c.3632G>C XP_011519350.1:p.Gly1211Ala
NM_001845.6:c.3824G>C MANE Select NP_001836.3:p.Gly1275Ala