Canonical Allele Identifier: CA217213
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66500
ClinVar RCV Id: RCV000056903 RCV000192139
dbSNP Id: rs61497286
MyVariant Identifiers: chr17:g.42990686G>A (hg19) chr17:g.44913318G>A (hg38)
PubMed: PMID:11595337 PMID:15732097 PMID:15732098 PMID:20301351 PMID:21533827
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44913318G>A , CM000679.2:g.44913318G>A GRCh38
NC_000017.10:g.42990686G>A , CM000679.1:g.42990686G>A GRCh37
NC_000017.9:g.40346212G>A NCBI36
NG_008401.1:g.7229C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.731C>T ENSP00000253408.5:p.Ala244Val
ENST00000435360.8:c.731C>T ENSP00000403962.1:p.Ala244Val
ENST00000253408.10:c.731C>T ENSP00000253408.5:p.Ala244Val
ENST00000435360.7:c.731C>T ENSP00000403962.1:p.Ala244Val
ENST00000586127.6:n.1260C>T
ENST00000586793.6:c.731C>T ENSP00000468500.2:p.Ala244Val
ENST00000587997.6:n.207C>T
ENST00000588735.3:c.731C>T MANE Select ENSP00000466598.2:p.Ala244Val
ENST00000591327.2:n.1885C>T
ENST00000592320.6:c.618+410C>T ENSP00000465320.1:n.618+410C>T
ENST00000638281.1:c.731C>T ENSP00000491088.1:p.Ala244Val
ENST00000638618.1:c.386C>T ENSP00000492832.1:p.Ala129Val
ENST00000639277.1:c.731C>T ENSP00000492432.1:p.Ala244Val
ENST00000640552.1:n.745C>T
ENST00000253408.9:c.731C>T ENSP00000253408.4:p.Ala244Val
ENST00000376990.8:c.*130C>T ENSP00000366189.4:n.*130C>T
ENST00000435360.6:c.731C>T ENSP00000403962.1:p.Ala244Val
ENST00000585728.5:c.*375C>T ENSP00000465208.1:n.*375C>T
ENST00000586793.5:c.731C>T ENSP00000468500.1:p.Ala244Val
ENST00000587997.5:c.207C>T
ENST00000588316.1:c.635C>T ENSP00000465629.1:p.Ala212Val
ENST00000588735.1:c.82+2087C>T ENSP00000466598.1:n.82+2087C>T
ENST00000588957.5:c.-2C>T ENSP00000465565.1:n.-2C>T
ENST00000590922.1:n.381C>T
ENST00000592320.5:c.618+410C>T ENSP00000465320.1:n.618+410C>T
NM_001131019.2:c.731C>T NP_001124491.1:p.Ala244Val
NM_001242376.1:c.731C>T NP_001229305.1:p.Ala244Val
NM_002055.4:c.731C>T NP_002046.1:p.Ala244Val
NM_001363846.1:c.731C>T NP_001350775.1:p.Ala244Val
XM_024450690.1:c.935C>T XP_024306458.1:p.Ala312Val
XM_024450691.1:c.935C>T XP_024306459.1:p.Ala312Val
XM_024450692.1:c.935C>T XP_024306460.1:p.Ala312Val
XM_024450693.1:c.935C>T XP_024306461.1:p.Ala312Val
NM_002055.5:c.731C>T MANE Select NP_002046.1:p.Ala244Val
NM_001131019.3:c.731C>T NP_001124491.1:p.Ala244Val
NM_001242376.2:c.731C>T NP_001229305.1:p.Ala244Val
NM_001242376.3:c.731C>T NP_001229305.1:p.Ala244Val
NM_001363846.2:c.731C>T NP_001350775.1:p.Ala244Val
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