Canonical Allele Identifier: CA484788610
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110818625C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110166278C>T , CM000675.2:g.110166278C>T GRCh38
NC_000013.10:g.110818625C>T , CM000675.1:g.110818625C>T GRCh37
NC_000013.9:g.109616626C>T NCBI36
NG_011544.2:g.145872G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3975G>A MANE Select ENSP00000364979.4:p.Gln1325=
ENST00000650424.1:c.131G>A
ENST00000375820.8:c.3975G>A ENSP00000364979.4:p.Gln1325=
NM_001845.5:c.3975G>A NP_001836.3:p.Gln1325=
XM_011521048.1:c.3783G>A XP_011519350.1:p.Gln1261=
XM_011521048.2:c.3783G>A XP_011519350.1:p.Gln1261=
NM_001845.6:c.3975G>A MANE Select NP_001836.3:p.Gln1325=