Canonical Allele Identifier: CA399843866
Gene: GFAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911330G>T , CM000679.2:g.44911330G>T GRCh38
NC_000017.10:g.42988698G>T , CM000679.1:g.42988698G>T GRCh37
NC_000017.9:g.40344224G>T NCBI36
NG_008401.1:g.9217C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.1033C>A ENSP00000253408.5:p.His345Asn
ENST00000435360.8:c.1033C>A ENSP00000403962.1:p.His345Asn
ENST00000253408.10:c.1033C>A ENSP00000253408.5:p.His345Asn
ENST00000435360.7:c.1033C>A ENSP00000403962.1:p.His345Asn
ENST00000585543.6:n.186C>A
ENST00000586127.6:n.1562C>A
ENST00000586793.6:c.907-9C>A ENSP00000468500.2:n.907-9C>A
ENST00000587997.6:n.509C>A
ENST00000588735.3:c.1033C>A MANE Select ENSP00000466598.2:p.His345Asn
ENST00000591327.2:n.2187C>A
ENST00000592320.6:c.619-9C>A ENSP00000465320.1:n.619-9C>A
ENST00000638281.1:c.1033C>A ENSP00000491088.1:p.His345Asn
ENST00000638618.1:c.688C>A ENSP00000492832.1:p.His230Asn
ENST00000639277.1:c.1033C>A ENSP00000492432.1:p.His345Asn
ENST00000640552.1:n.1047C>A
ENST00000253408.9:c.1033C>A ENSP00000253408.4:p.His345Asn
ENST00000376990.8:c.*432C>A ENSP00000366189.4:n.*432C>A
ENST00000435360.6:c.1033C>A ENSP00000403962.1:p.His345Asn
ENST00000585543.5:n.186C>A
ENST00000586793.5:c.1033C>A ENSP00000468500.1:p.His345Asn
ENST00000587997.5:c.509C>A
ENST00000588640.5:n.413C>A
ENST00000588735.1:c.83-3214C>A ENSP00000466598.1:n.83-3214C>A
ENST00000592320.5:c.619-9C>A ENSP00000465320.1:n.619-9C>A
NM_001131019.2:c.1033C>A NP_001124491.1:p.His345Asn
NM_001242376.1:c.1033C>A NP_001229305.1:p.His345Asn
NM_002055.4:c.1033C>A NP_002046.1:p.His345Asn
NM_001363846.1:c.1033C>A NP_001350775.1:p.His345Asn
XM_024450690.1:c.1237C>A XP_024306458.1:p.His413Asn
XM_024450691.1:c.1237C>A XP_024306459.1:p.His413Asn
XM_024450692.1:c.1237C>A XP_024306460.1:p.His413Asn
XM_024450693.1:c.1237C>A XP_024306461.1:p.His413Asn
NM_002055.5:c.1033C>A MANE Select NP_002046.1:p.His345Asn
NM_001131019.3:c.1033C>A NP_001124491.1:p.His345Asn
NM_001242376.2:c.1033C>A NP_001229305.1:p.His345Asn
NM_001242376.3:c.1033C>A NP_001229305.1:p.His345Asn
NM_001363846.2:c.1033C>A NP_001350775.1:p.His345Asn