Canonical Allele Identifier: CA2838381148
Gene: CNFN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42389094C>A , CM000681.2:g.42389094C>A GRCh38
NC_000019.9:g.42893246C>A , CM000681.1:g.42893246C>A GRCh37
NC_000019.8:g.47585086C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000222032.10:c.-2-55G>T MANE Select ENSP00000222032.4:n.-2-55G>T
ENST00000222032.9:c.-2-55G>T ENSP00000222032.4:n.-2-55G>T
ENST00000597255.1:c.-2-55G>T ENSP00000469590.1:n.-2-55G>T
NM_032488.3:c.-2-55G>T NP_115877.2:n.-2-55G>T
XM_005259332.2:c.38-55G>T XP_005259389.1:n.38-55G>T
XM_011527396.1:c.38-55G>T XP_011525698.1:n.38-55G>T
XM_011527397.1:c.38-55G>T XP_011525699.1:n.38-55G>T
XM_005259332.3:c.38-55G>T XP_005259389.1:n.38-55G>T
XM_011527396.2:c.38-55G>T XP_011525698.1:n.38-55G>T
XM_011527397.2:c.38-55G>T XP_011525699.1:n.38-55G>T
NM_032488.4:c.-2-55G>T MANE Select NP_115877.2:n.-2-55G>T