Canonical Allele Identifier: CA2118737031
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110173910C= , CM000675.2:g.110173910C= GRCh38
NC_000013.10:g.110826257C= , CM000675.1:g.110826257C= GRCh37
NC_000013.9:g.109624258C= NCBI36
NG_011544.2:g.138240G=

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.3495G= MANE Select ENSP00000364979.4:p.Lys1165=
ENST00000375820.8:c.3495G= ENSP00000364979.4:p.Lys1165=
NM_001845.5:c.3495G= NP_001836.3:p.Lys1165=
XM_011521048.1:c.3303G= XP_011519350.1:p.Lys1101=
XM_011521048.2:c.3303G= XP_011519350.1:p.Lys1101=
NM_001845.6:c.3495G= MANE Select NP_001836.3:p.Lys1165=