Canonical Allele Identifier: CA2118734041
Gene: COL4A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110170538T= , CM000675.2:g.110170538T= GRCh38
NC_000013.10:g.110822885T= , CM000675.1:g.110822885T= GRCh37
NC_000013.9:g.109620886T= NCBI36
NG_011544.2:g.141612A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.3742+9A= MANE Select ENSP00000364979.4:n.3742+9A=
ENST00000375820.8:c.3742+9A= ENSP00000364979.4:n.3742+9A=
NM_001845.5:c.3742+9A= NP_001836.3:n.3742+9A=
XM_011521048.1:c.3550+9A= XP_011519350.1:n.3550+9A=
XM_011521048.2:c.3550+9A= XP_011519350.1:n.3550+9A=
NM_001845.6:c.3742+9A= MANE Select NP_001836.3:n.3742+9A=