Canonical Allele Identifier: CA217191
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66484
ClinVar RCV Id: RCV000056885 RCV000192126
dbSNP Id: rs267607509
gnomAD v4: 17-44915105-C-T
MyVariant Identifiers: chr17:g.42992473C>T (hg19) chr17:g.44915105C>T (hg38)
PubMed: PMID:18388212 PMID:18684770 PMID:20301351
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44915105C>T , CM000679.2:g.44915105C>T GRCh38
NC_000017.10:g.42992473C>T , CM000679.1:g.42992473C>T GRCh37
NC_000017.9:g.40347999C>T NCBI36
NG_008401.1:g.5442G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.382G>A ENSP00000253408.5:p.Asp128Asn
ENST00000435360.8:c.382G>A ENSP00000403962.1:p.Asp128Asn
ENST00000253408.10:c.382G>A ENSP00000253408.5:p.Asp128Asn
ENST00000435360.7:c.382G>A ENSP00000403962.1:p.Asp128Asn
ENST00000586793.6:c.382G>A ENSP00000468500.2:p.Asp128Asn
ENST00000588735.3:c.382G>A MANE Select ENSP00000466598.2:p.Asp128Asn
ENST00000591327.2:n.395G>A
ENST00000592320.6:c.382G>A ENSP00000465320.1:p.Asp128Asn
ENST00000638281.1:c.382G>A ENSP00000491088.1:p.Asp128Asn
ENST00000638618.1:c.37G>A ENSP00000492832.1:p.Asp13Asn
ENST00000639277.1:c.382G>A ENSP00000492432.1:p.Asp128Asn
ENST00000640552.1:n.396G>A
ENST00000253408.9:c.382G>A ENSP00000253408.4:p.Asp128Asn
ENST00000376990.8:c.382G>A ENSP00000366189.4:p.Asp128Asn
ENST00000435360.6:c.382G>A ENSP00000403962.1:p.Asp128Asn
ENST00000585728.5:c.*26G>A ENSP00000465208.1:n.*26G>A
ENST00000586793.5:c.382G>A ENSP00000468500.1:p.Asp128Asn
ENST00000588037.1:c.382G>A ENSP00000466163.1:p.Asp128Asn
ENST00000588316.1:c.382G>A ENSP00000465629.1:p.Asp128Asn
ENST00000588735.1:c.82+300G>A ENSP00000466598.1:n.82+300G>A
ENST00000588957.5:c.-272+712G>A ENSP00000465565.1:n.-272+712G>A
ENST00000591327.1:n.396G>A
ENST00000592320.5:c.382G>A ENSP00000465320.1:p.Asp128Asn
NM_001131019.2:c.382G>A NP_001124491.1:p.Asp128Asn
NM_001242376.1:c.382G>A NP_001229305.1:p.Asp128Asn
NM_002055.4:c.382G>A NP_002046.1:p.Asp128Asn
NM_001363846.1:c.382G>A NP_001350775.1:p.Asp128Asn
XM_024450690.1:c.382G>A XP_024306458.1:p.Asp128Asn
XM_024450691.1:c.382G>A XP_024306459.1:p.Asp128Asn
XM_024450692.1:c.382G>A XP_024306460.1:p.Asp128Asn
XM_024450693.1:c.382G>A XP_024306461.1:p.Asp128Asn
NM_002055.5:c.382G>A MANE Select NP_002046.1:p.Asp128Asn
NM_001131019.3:c.382G>A NP_001124491.1:p.Asp128Asn
NM_001242376.2:c.382G>A NP_001229305.1:p.Asp128Asn
NM_001242376.3:c.382G>A NP_001229305.1:p.Asp128Asn
NM_001363846.2:c.382G>A NP_001350775.1:p.Asp128Asn
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