Canonical Allele Identifier: CA2838202562

Gene: CIB4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26639533A>C , CM000664.2:g.26639533A>C	GRCh38
NC_000002.11:g.26862401A>C , CM000664.1:g.26862401A>C	GRCh37
NC_000002.10:g.26715905A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288861.5:c.89+1000T>G MANE Select	ENSP00000288861.4:n.89+1000T>G
ENST00000288861.4:c.89+1000T>G	ENSP00000288861.4:n.89+1000T>G
NM_001029881.1:c.89+1000T>G	NP_001025052.1:n.89+1000T>G
XM_011532514.1:c.137+1000T>G	XP_011530816.1:n.137+1000T>G
XM_011532515.1:c.89+1000T>G	XP_011530817.1:n.89+1000T>G
NM_001029881.2:c.89+1000T>G	NP_001025052.1:n.89+1000T>G
XM_011532514.2:c.137+1000T>G	XP_011530816.1:n.137+1000T>G
XM_017003331.1:c.137+1000T>G	XP_016858820.1:n.137+1000T>G
XM_024452692.1:c.137+1000T>G	XP_024308460.1:n.137+1000T>G
NM_001029881.3:c.89+1000T>G MANE Select	NP_001025052.1:n.89+1000T>G