Canonical Allele Identifier: CA8608773

Gene: GFAP

Linked Data

• ClinVar Variation Id: 265178
• ClinVar RCV Id: RCV000254720
• dbSNP Id: rs149353780
• ExAC: 17:42988728 C / T
• gnomAD v2: 17-42988728-C-T
• gnomAD v3: 17-44911360-C-T
• gnomAD v4: 17-44911360-C-T
• MyVariant Identifiers: chr17:g.42988728C>T (hg19) ; chr17:g.44911360C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911360C>T , CM000679.2:g.44911360C>T	GRCh38
NC_000017.10:g.42988728C>T , CM000679.1:g.42988728C>T	GRCh37
NC_000017.9:g.40344254C>T	NCBI36
NG_008401.1:g.9187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1003G>A	ENSP00000253408.5:p.Gly335Arg
ENST00000435360.8:c.1003G>A	ENSP00000403962.1:p.Gly335Arg
ENST00000253408.10:c.1003G>A	ENSP00000253408.5:p.Gly335Arg
ENST00000435360.7:c.1003G>A	ENSP00000403962.1:p.Gly335Arg
ENST00000585543.6:n.156G>A
ENST00000586127.6:n.1532G>A
ENST00000586793.6:c.907-39G>A	ENSP00000468500.2:n.907-39G>A
ENST00000587997.6:n.479G>A
ENST00000588735.3:c.1003G>A MANE Select	ENSP00000466598.2:p.Gly335Arg
ENST00000591327.2:n.2157G>A
ENST00000592320.6:c.619-39G>A	ENSP00000465320.1:n.619-39G>A
ENST00000638281.1:c.1003G>A	ENSP00000491088.1:p.Gly335Arg
ENST00000638618.1:c.658G>A	ENSP00000492832.1:p.Gly220Arg
ENST00000639277.1:c.1003G>A	ENSP00000492432.1:p.Gly335Arg
ENST00000640552.1:n.1017G>A
ENST00000253408.9:c.1003G>A	ENSP00000253408.4:p.Gly335Arg
ENST00000376990.8:c.*402G>A	ENSP00000366189.4:n.*402G>A
ENST00000435360.6:c.1003G>A	ENSP00000403962.1:p.Gly335Arg
ENST00000585543.5:n.156G>A
ENST00000586793.5:c.1003G>A	ENSP00000468500.1:p.Gly335Arg
ENST00000587997.5:c.479G>A
ENST00000588640.5:n.383G>A
ENST00000588735.1:c.83-3244G>A	ENSP00000466598.1:n.83-3244G>A
ENST00000592320.5:c.619-39G>A	ENSP00000465320.1:n.619-39G>A
NM_001131019.2:c.1003G>A	NP_001124491.1:p.Gly335Arg
NM_001242376.1:c.1003G>A	NP_001229305.1:p.Gly335Arg
NM_002055.4:c.1003G>A	NP_002046.1:p.Gly335Arg
NM_001363846.1:c.1003G>A	NP_001350775.1:p.Gly335Arg
XM_024450690.1:c.1207G>A	XP_024306458.1:p.Gly403Arg
XM_024450691.1:c.1207G>A	XP_024306459.1:p.Gly403Arg
XM_024450692.1:c.1207G>A	XP_024306460.1:p.Gly403Arg
XM_024450693.1:c.1207G>A	XP_024306461.1:p.Gly403Arg
NM_002055.5:c.1003G>A MANE Select	NP_002046.1:p.Gly335Arg
NM_001131019.3:c.1003G>A	NP_001124491.1:p.Gly335Arg
NM_001242376.2:c.1003G>A	NP_001229305.1:p.Gly335Arg
NM_001242376.3:c.1003G>A	NP_001229305.1:p.Gly335Arg
NM_001363846.2:c.1003G>A	NP_001350775.1:p.Gly335Arg