Canonical Allele Identifier: CA8608624

Gene: GFAP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908105T>C , CM000679.2:g.44908105T>C	GRCh38
NC_000017.10:g.42985473T>C , CM000679.1:g.42985473T>C	GRCh37
NC_000017.9:g.40340999T>C	NCBI36
NG_008401.1:g.12442A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002055.5:c.1216A>G MANE Select	NP_002046.1:p.Arg406Gly
ENST00000588735.3:c.1216A>G MANE Select	ENSP00000466598.2:p.Arg406Gly
NM_001363846.1:c.1336A>G	NP_001350775.1:p.Arg446Gly
NM_001363846.2:c.1336A>G	NP_001350775.1:p.Arg446Gly
NM_002055.4:c.1216A>G	NP_002046.1:p.Arg406Gly
ENST00000253408.10:c.1336A>G	ENSP00000253408.5:p.Arg446Gly
ENST00000253408.11:c.1336A>G	ENSP00000253408.5:p.Arg446Gly
ENST00000253408.9:c.1216A>G	ENSP00000253408.4:p.Arg406Gly
ENST00000441312.2:n.69A>G
ENST00000585543.5:n.369A>G
ENST00000585543.6:n.369A>G
ENST00000586125.1:c.187A>G	ENSP00000467397.1:p.Arg63Gly
ENST00000586125.2:c.151A>G	ENSP00000467397.2:p.Arg51Gly
ENST00000588735.1:c.94A>G	ENSP00000466598.1:p.Arg32Gly
ENST00000589701.1:n.118A>G
ENST00000589701.2:n.2123A>G
ENST00000591880.1:c.82A>G	ENSP00000467530.1:p.Arg28Gly
ENST00000591880.2:c.315A>G
ENST00000592065.1:n.10A>G
ENST00000592065.2:n.584A>G
ENST00000592706.5:n.88A>G
ENST00000638304.1:c.135A>G
ENST00000638400.1:c.51A>G
ENST00000638488.1:n.680A>G
ENST00000638618.1:c.871A>G	ENSP00000492832.1:p.Arg291Gly
ENST00000638921.1:n.143A>G
ENST00000639042.1:c.188A>G
ENST00000639277.1:c.1216A>G	ENSP00000492432.1:p.Arg406Gly
ENST00000639369.1:c.66A>G
ENST00000640545.1:c.22A>G	ENSP00000491735.1:p.Arg8Gly
ENST00000640859.1:c.30A>G
XM_024450690.1:c.1540A>G	XP_024306458.1:p.Arg514Gly
XM_024450692.1:c.1420A>G	XP_024306460.1:p.Arg474Gly