Canonical Allele Identifier: CA291027719

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44910611T>C , CM000679.2:g.44910611T>C	GRCh38
NC_000017.10:g.42987979T>C , CM000679.1:g.42987979T>C	GRCh37
NC_000017.9:g.40343505T>C	NCBI36
NG_008401.1:g.9936A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002055.5:c.1171+4A>G MANE Select	NP_002046.1:n.1171+4A>G
ENST00000588735.3:c.1171+4A>G MANE Select	ENSP00000466598.2:n.1171+4A>G
NM_001131019.2:c.1171+4A>G	NP_001124491.1:n.1171+4A>G
NM_001131019.3:c.1171+4A>G	NP_001124491.1:n.1171+4A>G
NM_001242376.1:c.1175A>G	NP_001229305.1:p.Gln392Arg
NM_001242376.2:c.1175A>G	NP_001229305.1:p.Gln392Arg
NM_001242376.3:c.1175A>G	NP_001229305.1:p.Gln392Arg
NM_001363846.1:c.1171+4A>G	NP_001350775.1:n.1171+4A>G
NM_001363846.2:c.1171+4A>G	NP_001350775.1:n.1171+4A>G
NM_002055.4:c.1171+4A>G	NP_002046.1:n.1171+4A>G
ENST00000253408.10:c.1171+4A>G	ENSP00000253408.5:n.1171+4A>G
ENST00000253408.11:c.1171+4A>G	ENSP00000253408.5:n.1171+4A>G
ENST00000253408.9:c.1171+4A>G	ENSP00000253408.4:n.1171+4A>G
ENST00000435360.6:c.1171+4A>G	ENSP00000403962.1:n.1171+4A>G
ENST00000435360.7:c.1171+4A>G	ENSP00000403962.1:n.1171+4A>G
ENST00000435360.8:c.1171+4A>G	ENSP00000403962.1:n.1171+4A>G
ENST00000585543.5:n.324+4A>G
ENST00000585543.6:n.324+4A>G
ENST00000586125.1:c.22+4A>G	ENSP00000467397.1:n.22+4A>G
ENST00000586125.2:c.106+4A>G	ENSP00000467397.2:n.106+4A>G
ENST00000586793.5:c.1175A>G	ENSP00000468500.1:p.Gln392Arg
ENST00000588640.5:n.551+4A>G
ENST00000588735.1:c.83-2495A>G	ENSP00000466598.1:n.83-2495A>G
ENST00000591327.2:n.2329A>G
ENST00000591880.1:c.37+4A>G	ENSP00000467530.1:n.37+4A>G
ENST00000591880.2:c.101+4A>G
ENST00000638281.1:c.1175A>G	ENSP00000491088.1:p.Gln392Arg
ENST00000638304.1:c.90+4A>G
ENST00000638400.1:c.6+4A>G
ENST00000638488.1:n.116A>G
ENST00000638618.1:c.826+4A>G	ENSP00000492832.1:n.826+4A>G
ENST00000639042.1:c.108+4A>G
ENST00000639277.1:c.1171+4A>G	ENSP00000492432.1:n.1171+4A>G
ENST00000639369.1:c.21+4A>G
ENST00000639921.1:c.348A>G
ENST00000640552.1:n.1189A>G
XM_024450690.1:c.1375+4A>G	XP_024306458.1:n.1375+4A>G
XM_024450691.1:c.1379A>G	XP_024306459.1:p.Gln460Arg
XM_024450692.1:c.1375+4A>G	XP_024306460.1:n.1375+4A>G
XM_024450693.1:c.1375+4A>G	XP_024306461.1:n.1375+4A>G