Canonical Allele Identifier: CA8608836

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911685G>A , CM000679.2:g.44911685G>A	GRCh38
NC_000017.10:g.42989053G>A , CM000679.1:g.42989053G>A	GRCh37
NC_000017.9:g.40344579G>A	NCBI36
NG_008401.1:g.8862C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.893C>T	ENSP00000253408.5:p.Ser298Phe
ENST00000435360.8:c.893C>T	ENSP00000403962.1:p.Ser298Phe
ENST00000253408.10:c.893C>T	ENSP00000253408.5:p.Ser298Phe
ENST00000435360.7:c.893C>T	ENSP00000403962.1:p.Ser298Phe
ENST00000586127.6:n.1422C>T
ENST00000586793.6:c.893C>T	ENSP00000468500.2:p.Ser298Phe
ENST00000587997.6:n.369C>T
ENST00000588735.3:c.893C>T MANE Select	ENSP00000466598.2:p.Ser298Phe
ENST00000591327.2:n.2047C>T
ENST00000592320.6:c.619-364C>T	ENSP00000465320.1:n.619-364C>T
ENST00000638281.1:c.893C>T	ENSP00000491088.1:p.Ser298Phe
ENST00000638618.1:c.548C>T	ENSP00000492832.1:p.Ser183Phe
ENST00000639277.1:c.893C>T	ENSP00000492432.1:p.Ser298Phe
ENST00000640552.1:n.907C>T
ENST00000253408.9:c.893C>T	ENSP00000253408.4:p.Ser298Phe
ENST00000376990.8:c.*292C>T	ENSP00000366189.4:n.*292C>T
ENST00000435360.6:c.893C>T	ENSP00000403962.1:p.Ser298Phe
ENST00000586793.5:c.893C>T	ENSP00000468500.1:p.Ser298Phe
ENST00000587997.5:c.369C>T
ENST00000588640.5:n.273C>T
ENST00000588735.1:c.83-3569C>T	ENSP00000466598.1:n.83-3569C>T
ENST00000588957.5:c.161C>T	ENSP00000465565.1:p.Ser54Phe
ENST00000590922.1:n.543C>T
ENST00000591719.5:n.527C>T
ENST00000592320.5:c.619-364C>T	ENSP00000465320.1:n.619-364C>T
NM_001131019.2:c.893C>T	NP_001124491.1:p.Ser298Phe
NM_001242376.1:c.893C>T	NP_001229305.1:p.Ser298Phe
NM_002055.4:c.893C>T	NP_002046.1:p.Ser298Phe
NM_001363846.1:c.893C>T	NP_001350775.1:p.Ser298Phe
XM_024450690.1:c.1097C>T	XP_024306458.1:p.Ser366Phe
XM_024450691.1:c.1097C>T	XP_024306459.1:p.Ser366Phe
XM_024450692.1:c.1097C>T	XP_024306460.1:p.Ser366Phe
XM_024450693.1:c.1097C>T	XP_024306461.1:p.Ser366Phe
NM_002055.5:c.893C>T MANE Select	NP_002046.1:p.Ser298Phe
NM_001131019.3:c.893C>T	NP_001124491.1:p.Ser298Phe
NM_001242376.2:c.893C>T	NP_001229305.1:p.Ser298Phe
NM_001242376.3:c.893C>T	NP_001229305.1:p.Ser298Phe
NM_001363846.2:c.893C>T	NP_001350775.1:p.Ser298Phe