Canonical Allele Identifier: CA484788712
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110822003C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110169656C>T , CM000675.2:g.110169656C>T GRCh38
NC_000013.10:g.110822003C>T , CM000675.1:g.110822003C>T GRCh37
NC_000013.9:g.109620004C>T NCBI36
NG_011544.2:g.142494G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3849G>A MANE Select ENSP00000364979.4:p.Lys1283=
ENST00000650424.1:c.5G>A
ENST00000375820.8:c.3849G>A ENSP00000364979.4:p.Lys1283=
NM_001845.5:c.3849G>A NP_001836.3:p.Lys1283=
XM_011521048.1:c.3657G>A XP_011519350.1:p.Lys1219=
XM_011521048.2:c.3657G>A XP_011519350.1:p.Lys1219=
NM_001845.6:c.3849G>A MANE Select NP_001836.3:p.Lys1283=