Canonical Allele Identifier: CA217112
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66435
ClinVar RCV Id: RCV000056829 RCV000192168
dbSNP Id: rs267607502
MyVariant Identifiers: chr17:g.42988634T>C (hg19) chr17:g.44911266T>C (hg38)
PubMed: PMID:17985264 PMID:20301351
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911266T>C , CM000679.2:g.44911266T>C GRCh38
NC_000017.10:g.42988634T>C , CM000679.1:g.42988634T>C GRCh37
NC_000017.9:g.40344160T>C NCBI36
NG_008401.1:g.9281A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.1097A>G ENSP00000253408.5:p.Tyr366Cys
ENST00000435360.8:c.1097A>G ENSP00000403962.1:p.Tyr366Cys
ENST00000253408.10:c.1097A>G ENSP00000253408.5:p.Tyr366Cys
ENST00000435360.7:c.1097A>G ENSP00000403962.1:p.Tyr366Cys
ENST00000585543.6:n.250A>G
ENST00000586125.2:c.32A>G ENSP00000467397.2:p.Tyr11Cys
ENST00000586127.6:n.1626A>G
ENST00000586793.6:c.962A>G ENSP00000468500.2:p.Tyr321Cys
ENST00000587997.6:n.573A>G
ENST00000588735.3:c.1097A>G MANE Select ENSP00000466598.2:p.Tyr366Cys
ENST00000591327.2:n.2251A>G
ENST00000591880.2:c.27A>G
ENST00000592320.6:c.674A>G ENSP00000465320.1:p.Tyr225Cys
ENST00000638281.1:c.1097A>G ENSP00000491088.1:p.Tyr366Cys
ENST00000638304.1:c.16A>G
ENST00000638488.1:n.38A>G
ENST00000638618.1:c.752A>G ENSP00000492832.1:p.Tyr251Cys
ENST00000639042.1:c.34A>G
ENST00000639277.1:c.1097A>G ENSP00000492432.1:p.Tyr366Cys
ENST00000639921.1:c.54A>G
ENST00000640552.1:n.1111A>G
ENST00000253408.9:c.1097A>G ENSP00000253408.4:p.Tyr366Cys
ENST00000435360.6:c.1097A>G ENSP00000403962.1:p.Tyr366Cys
ENST00000585543.5:n.250A>G
ENST00000586793.5:c.1097A>G ENSP00000468500.1:p.Tyr366Cys
ENST00000588640.5:n.477A>G
ENST00000588735.1:c.83-3150A>G ENSP00000466598.1:n.83-3150A>G
ENST00000592320.5:c.674A>G ENSP00000465320.1:p.Tyr225Cys
NM_001131019.2:c.1097A>G NP_001124491.1:p.Tyr366Cys
NM_001242376.1:c.1097A>G NP_001229305.1:p.Tyr366Cys
NM_002055.4:c.1097A>G NP_002046.1:p.Tyr366Cys
NM_001363846.1:c.1097A>G NP_001350775.1:p.Tyr366Cys
XM_024450690.1:c.1301A>G XP_024306458.1:p.Tyr434Cys
XM_024450691.1:c.1301A>G XP_024306459.1:p.Tyr434Cys
XM_024450692.1:c.1301A>G XP_024306460.1:p.Tyr434Cys
XM_024450693.1:c.1301A>G XP_024306461.1:p.Tyr434Cys
NM_002055.5:c.1097A>G MANE Select NP_002046.1:p.Tyr366Cys
NM_001131019.3:c.1097A>G NP_001124491.1:p.Tyr366Cys
NM_001242376.2:c.1097A>G NP_001229305.1:p.Tyr366Cys
NM_001242376.3:c.1097A>G NP_001229305.1:p.Tyr366Cys
NM_001363846.2:c.1097A>G NP_001350775.1:p.Tyr366Cys
Search 100 bp 5'
Search 100 bp 3'