Canonical Allele Identifier: CA217128

Gene: GFAP

Linked Data

• ClinVar Variation Id: 66447
• ClinVar RCV Id: RCV000056841 ; RCV000192178
• dbSNP Id: rs267607517
• gnomAD v2: 17-42988006-G-A
• MyVariant Identifiers: chr17:g.42988006G>A (hg19) ; chr17:g.44910638G>A (hg38)
• PubMed: PMID:20301351 ; PMID:21165639

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44910638G>A , CM000679.2:g.44910638G>A	GRCh38
NC_000017.10:g.42988006G>A , CM000679.1:g.42988006G>A	GRCh37
NC_000017.9:g.40343532G>A	NCBI36
NG_008401.1:g.9909C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1148C>T	ENSP00000253408.5:p.Thr383Ile
ENST00000435360.8:c.1148C>T	ENSP00000403962.1:p.Thr383Ile
ENST00000253408.10:c.1148C>T	ENSP00000253408.5:p.Thr383Ile
ENST00000435360.7:c.1148C>T	ENSP00000403962.1:p.Thr383Ile
ENST00000585543.6:n.301C>T
ENST00000586125.2:c.83C>T	ENSP00000467397.2:p.Thr28Ile
ENST00000586127.6:n.1677C>T
ENST00000588735.3:c.1148C>T MANE Select	ENSP00000466598.2:p.Thr383Ile
ENST00000591327.2:n.2302C>T
ENST00000591880.2:c.78C>T
ENST00000592320.6:c.725C>T	ENSP00000465320.1:p.Thr242Ile
ENST00000638281.1:c.1148C>T	ENSP00000491088.1:p.Thr383Ile
ENST00000638304.1:c.67C>T
ENST00000638488.1:n.89C>T
ENST00000638618.1:c.803C>T	ENSP00000492832.1:p.Thr268Ile
ENST00000639042.1:c.85C>T
ENST00000639277.1:c.1148C>T	ENSP00000492432.1:p.Thr383Ile
ENST00000639921.1:c.321C>T
ENST00000640552.1:n.1162C>T
ENST00000253408.9:c.1148C>T	ENSP00000253408.4:p.Thr383Ile
ENST00000435360.6:c.1148C>T	ENSP00000403962.1:p.Thr383Ile
ENST00000585543.5:n.301C>T
ENST00000586793.5:c.1148C>T	ENSP00000468500.1:p.Thr383Ile
ENST00000588640.5:n.528C>T
ENST00000588735.1:c.83-2522C>T	ENSP00000466598.1:n.83-2522C>T
ENST00000591880.1:c.14C>T	ENSP00000467530.1:p.Thr5Ile
ENST00000592320.5:c.725C>T	ENSP00000465320.1:p.Thr242Ile
NM_001131019.2:c.1148C>T	NP_001124491.1:p.Thr383Ile
NM_001242376.1:c.1148C>T	NP_001229305.1:p.Thr383Ile
NM_002055.4:c.1148C>T	NP_002046.1:p.Thr383Ile
NM_001363846.1:c.1148C>T	NP_001350775.1:p.Thr383Ile
XM_024450690.1:c.1352C>T	XP_024306458.1:p.Thr451Ile
XM_024450691.1:c.1352C>T	XP_024306459.1:p.Thr451Ile
XM_024450692.1:c.1352C>T	XP_024306460.1:p.Thr451Ile
XM_024450693.1:c.1352C>T	XP_024306461.1:p.Thr451Ile
NM_002055.5:c.1148C>T MANE Select	NP_002046.1:p.Thr383Ile
NM_001131019.3:c.1148C>T	NP_001124491.1:p.Thr383Ile
NM_001242376.2:c.1148C>T	NP_001229305.1:p.Thr383Ile
NM_001242376.3:c.1148C>T	NP_001229305.1:p.Thr383Ile
NM_001363846.2:c.1148C>T	NP_001350775.1:p.Thr383Ile