Canonical Allele Identifier: CA500321237

Gene: GFAP

Linked Data

• gnomAD v4: 17-44911244-C-T
• MyVariant Identifiers: chr17:g.42988612C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911244C>T , CM000679.2:g.44911244C>T	GRCh38
NC_000017.10:g.42988612C>T , CM000679.1:g.42988612C>T	GRCh37
NC_000017.9:g.40344138C>T	NCBI36
NG_008401.1:g.9303G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1119G>A	ENSP00000253408.5:p.Glu373=
ENST00000435360.8:c.1119G>A	ENSP00000403962.1:p.Glu373=
ENST00000253408.10:c.1119G>A	ENSP00000253408.5:p.Glu373=
ENST00000435360.7:c.1119G>A	ENSP00000403962.1:p.Glu373=
ENST00000585543.6:n.272G>A
ENST00000586125.2:c.54G>A	ENSP00000467397.2:p.Glu18=
ENST00000586127.6:n.1648G>A
ENST00000586793.6:c.984G>A	ENSP00000468500.2:p.Glu328=
ENST00000587997.6:n.595G>A
ENST00000588735.3:c.1119G>A MANE Select	ENSP00000466598.2:p.Glu373=
ENST00000591327.2:n.2273G>A
ENST00000591880.2:c.49G>A
ENST00000592320.6:c.696G>A	ENSP00000465320.1:p.Glu232=
ENST00000638281.1:c.1119G>A	ENSP00000491088.1:p.Glu373=
ENST00000638304.1:c.38G>A
ENST00000638488.1:n.60G>A
ENST00000638618.1:c.774G>A	ENSP00000492832.1:p.Glu258=
ENST00000639042.1:c.56G>A
ENST00000639277.1:c.1119G>A	ENSP00000492432.1:p.Glu373=
ENST00000639921.1:c.76G>A
ENST00000640552.1:n.1133G>A
ENST00000253408.9:c.1119G>A	ENSP00000253408.4:p.Glu373=
ENST00000435360.6:c.1119G>A	ENSP00000403962.1:p.Glu373=
ENST00000585543.5:n.272G>A
ENST00000586793.5:c.1119G>A	ENSP00000468500.1:p.Glu373=
ENST00000588640.5:n.499G>A
ENST00000588735.1:c.83-3128G>A	ENSP00000466598.1:n.83-3128G>A
ENST00000592320.5:c.696G>A	ENSP00000465320.1:p.Glu232=
NM_001131019.2:c.1119G>A	NP_001124491.1:p.Glu373=
NM_001242376.1:c.1119G>A	NP_001229305.1:p.Glu373=
NM_002055.4:c.1119G>A	NP_002046.1:p.Glu373=
NM_001363846.1:c.1119G>A	NP_001350775.1:p.Glu373=
XM_024450690.1:c.1323G>A	XP_024306458.1:p.Glu441=
XM_024450691.1:c.1323G>A	XP_024306459.1:p.Glu441=
XM_024450692.1:c.1323G>A	XP_024306460.1:p.Glu441=
XM_024450693.1:c.1323G>A	XP_024306461.1:p.Glu441=
NM_002055.5:c.1119G>A MANE Select	NP_002046.1:p.Glu373=
NM_001131019.3:c.1119G>A	NP_001124491.1:p.Glu373=
NM_001242376.2:c.1119G>A	NP_001229305.1:p.Glu373=
NM_001242376.3:c.1119G>A	NP_001229305.1:p.Glu373=
NM_001363846.2:c.1119G>A	NP_001350775.1:p.Glu373=