Canonical Allele Identifier: CA484788850
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822895T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170548T>G , CM000675.2:g.110170548T>G GRCh38
NC_000013.10:g.110822895T>G , CM000675.1:g.110822895T>G GRCh37
NC_000013.9:g.109620896T>G NCBI36
NG_011544.2:g.141602A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3741A>C MANE Select ENSP00000364979.4:p.Pro1247=
ENST00000375820.8:c.3741A>C ENSP00000364979.4:p.Pro1247=
NM_001845.5:c.3741A>C NP_001836.3:p.Pro1247=
XM_011521048.1:c.3549A>C XP_011519350.1:p.Pro1183=
XM_011521048.2:c.3549A>C XP_011519350.1:p.Pro1183=
NM_001845.6:c.3741A>C MANE Select NP_001836.3:p.Pro1247=