Canonical Allele Identifier: CA217223

Gene: GFAP

Linked Data

• ClinVar Variation Id: 16177
• ClinVar RCV Id: RCV000017560 ; RCV000056910
• dbSNP Id: rs121909719
• MyVariant Identifiers: chr17:g.42989119C>A (hg19) ; chr17:g.44911751C>A (hg38)
• PubMed: PMID:12447932 ; PMID:20301351 ; PMID:21533827 ; PMID:22198646

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911751C>A , CM000679.2:g.44911751C>A	GRCh38
NC_000017.10:g.42989119C>A , CM000679.1:g.42989119C>A	GRCh37
NC_000017.9:g.40344645C>A	NCBI36
NG_008401.1:g.8796G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.827G>T	ENSP00000253408.5:p.Arg276Leu
ENST00000435360.8:c.827G>T	ENSP00000403962.1:p.Arg276Leu
ENST00000253408.10:c.827G>T	ENSP00000253408.5:p.Arg276Leu
ENST00000435360.7:c.827G>T	ENSP00000403962.1:p.Arg276Leu
ENST00000586127.6:n.1356G>T
ENST00000586793.6:c.827G>T	ENSP00000468500.2:p.Arg276Leu
ENST00000587997.6:n.303G>T
ENST00000588735.3:c.827G>T MANE Select	ENSP00000466598.2:p.Arg276Leu
ENST00000591327.2:n.1981G>T
ENST00000592320.6:c.619-430G>T	ENSP00000465320.1:n.619-430G>T
ENST00000638281.1:c.827G>T	ENSP00000491088.1:p.Arg276Leu
ENST00000638618.1:c.482G>T	ENSP00000492832.1:p.Arg161Leu
ENST00000639277.1:c.827G>T	ENSP00000492432.1:p.Arg276Leu
ENST00000640552.1:n.841G>T
ENST00000253408.9:c.827G>T	ENSP00000253408.4:p.Arg276Leu
ENST00000376990.8:c.*226G>T	ENSP00000366189.4:n.*226G>T
ENST00000435360.6:c.827G>T	ENSP00000403962.1:p.Arg276Leu
ENST00000586793.5:c.827G>T	ENSP00000468500.1:p.Arg276Leu
ENST00000587997.5:c.303G>T
ENST00000588316.1:c.731G>T	ENSP00000465629.1:p.Arg244Leu
ENST00000588640.5:n.207G>T
ENST00000588735.1:c.83-3635G>T	ENSP00000466598.1:n.83-3635G>T
ENST00000588957.5:c.95G>T	ENSP00000465565.1:p.Arg32Leu
ENST00000590922.1:n.477G>T
ENST00000591719.5:n.461G>T
ENST00000592320.5:c.619-430G>T	ENSP00000465320.1:n.619-430G>T
NM_001131019.2:c.827G>T	NP_001124491.1:p.Arg276Leu
NM_001242376.1:c.827G>T	NP_001229305.1:p.Arg276Leu
NM_002055.4:c.827G>T	NP_002046.1:p.Arg276Leu
NM_001363846.1:c.827G>T	NP_001350775.1:p.Arg276Leu
XM_024450690.1:c.1031G>T	XP_024306458.1:p.Arg344Leu
XM_024450691.1:c.1031G>T	XP_024306459.1:p.Arg344Leu
XM_024450692.1:c.1031G>T	XP_024306460.1:p.Arg344Leu
XM_024450693.1:c.1031G>T	XP_024306461.1:p.Arg344Leu
NM_002055.5:c.827G>T MANE Select	NP_002046.1:p.Arg276Leu
NM_001131019.3:c.827G>T	NP_001124491.1:p.Arg276Leu
NM_001242376.2:c.827G>T	NP_001229305.1:p.Arg276Leu
NM_001242376.3:c.827G>T	NP_001229305.1:p.Arg276Leu
NM_001363846.2:c.827G>T	NP_001350775.1:p.Arg276Leu