Canonical Allele Identifier: CA1347446588
Gene: COL6A4P1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15175109G= , CM000665.2:g.15175109G= GRCh38
NC_000003.11:g.15216616G= , CM000665.1:g.15216616G= GRCh37
NC_000003.10:g.15191620G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000446690.2:n.1095C=
ENST00000487147.5:n.919C=
NR_027927.1:n.1095C=