Canonical Allele Identifier: CA2261612647

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913332G= , CM000679.2:g.44913332G=	GRCh38
NC_000017.10:g.42990700G= , CM000679.1:g.42990700G=	GRCh37
NC_000017.9:g.40346226G=	NCBI36
NG_008401.1:g.7215C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.717C=	ENSP00000253408.5:p.Arg239=
ENST00000435360.8:c.717C=	ENSP00000403962.1:p.Arg239=
ENST00000253408.10:c.717C=	ENSP00000253408.5:p.Arg239=
ENST00000435360.7:c.717C=	ENSP00000403962.1:p.Arg239=
ENST00000586127.6:n.1246C=
ENST00000586793.6:c.717C=	ENSP00000468500.2:p.Arg239=
ENST00000587997.6:n.193C=
ENST00000588735.3:c.717C= MANE Select	ENSP00000466598.2:p.Arg239=
ENST00000591327.2:n.1871C=
ENST00000592320.6:c.618+396C=	ENSP00000465320.1:n.618+396C=
ENST00000638281.1:c.717C=	ENSP00000491088.1:p.Arg239=
ENST00000638618.1:c.372C=	ENSP00000492832.1:p.Arg124=
ENST00000639277.1:c.717C=	ENSP00000492432.1:p.Arg239=
ENST00000640552.1:n.731C=
ENST00000253408.9:c.717C=	ENSP00000253408.4:p.Arg239=
ENST00000376990.8:c.*116C=	ENSP00000366189.4:n.*116C=
ENST00000435360.6:c.717C=	ENSP00000403962.1:p.Arg239=
ENST00000585728.5:c.*361C=	ENSP00000465208.1:n.*361C=
ENST00000586793.5:c.717C=	ENSP00000468500.1:p.Arg239=
ENST00000587997.5:c.193C=
ENST00000588316.1:c.621C=	ENSP00000465629.1:p.Arg207=
ENST00000588735.1:c.82+2073C=	ENSP00000466598.1:n.82+2073C=
ENST00000588957.5:c.-16C=	ENSP00000465565.1:n.-16C=
ENST00000590922.1:n.367C=
ENST00000592320.5:c.618+396C=	ENSP00000465320.1:n.618+396C=
NM_001131019.2:c.717C=	NP_001124491.1:p.Arg239=
NM_001242376.1:c.717C=	NP_001229305.1:p.Arg239=
NM_002055.4:c.717C=	NP_002046.1:p.Arg239=
NM_001363846.1:c.717C=	NP_001350775.1:p.Arg239=
XM_024450690.1:c.921C=	XP_024306458.1:p.Arg307=
XM_024450691.1:c.921C=	XP_024306459.1:p.Arg307=
XM_024450692.1:c.921C=	XP_024306460.1:p.Arg307=
XM_024450693.1:c.921C=	XP_024306461.1:p.Arg307=
NM_002055.5:c.717C= MANE Select	NP_002046.1:p.Arg239=
NM_001131019.3:c.717C=	NP_001124491.1:p.Arg239=
NM_001242376.2:c.717C=	NP_001229305.1:p.Arg239=
NM_001242376.3:c.717C=	NP_001229305.1:p.Arg239=
NM_001363846.2:c.717C=	NP_001350775.1:p.Arg239=