Canonical Allele Identifier: CA7734236

Gene: CIB1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90231365C>T , CM000677.2:g.90231365C>T	GRCh38
NC_000015.9:g.90774597C>T , CM000677.1:g.90774597C>T	GRCh37
NC_000015.8:g.88575601C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006384.4:c.338G>A MANE Select	NP_006375.2:p.Arg113His
ENST00000328649.11:c.338G>A MANE Select	ENSP00000333873.6:p.Arg113His
NM_001277764.1:c.458G>A	NP_001264693.1:p.Arg153His
NM_001277764.2:c.458G>A	NP_001264693.1:p.Arg153His
NM_006384.3:c.338G>A	NP_006375.2:p.Arg113His
NR_102427.1:n.524G>A
NR_102428.1:n.390G>A
ENST00000328649.10:c.338G>A	ENSP00000333873.6:p.Arg113His
ENST00000612800.1:c.458G>A	ENSP00000479860.1:p.Arg153His
ENST00000650306.1:c.-107G>A	ENSP00000497451.1:n.-107G>A
ENST00000695870.1:n.2197G>A
ENST00000695871.1:n.611G>A
ENST00000695872.1:n.370G>A
ENST00000695873.1:n.375G>A
ENST00000695874.1:n.507G>A
XM_006720375.1:c.338G>A	XP_006720438.1:p.Arg113His
XM_006720375.2:c.338G>A	XP_006720438.1:p.Arg113His