Canonical Allele Identifier: CA217236
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66515
ClinVar RCV Id: RCV000056919 RCV000192154
dbSNP Id: rs267607514
MyVariant Identifiers: chr17:g.42988737C>T (hg19) chr17:g.44911369C>T (hg38)
PubMed: PMID:18388212 PMID:18684770 PMID:20301351
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911369C>T , CM000679.2:g.44911369C>T GRCh38
NC_000017.10:g.42988737C>T , CM000679.1:g.42988737C>T GRCh37
NC_000017.9:g.40344263C>T NCBI36
NG_008401.1:g.9178G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.994G>A ENSP00000253408.5:p.Glu332Lys
ENST00000435360.8:c.994G>A ENSP00000403962.1:p.Glu332Lys
ENST00000253408.10:c.994G>A ENSP00000253408.5:p.Glu332Lys
ENST00000435360.7:c.994G>A ENSP00000403962.1:p.Glu332Lys
ENST00000585543.6:n.147G>A
ENST00000586127.6:n.1523G>A
ENST00000586793.6:c.907-48G>A ENSP00000468500.2:n.907-48G>A
ENST00000587997.6:n.470G>A
ENST00000588735.3:c.994G>A MANE Select ENSP00000466598.2:p.Glu332Lys
ENST00000591327.2:n.2148G>A
ENST00000592320.6:c.619-48G>A ENSP00000465320.1:n.619-48G>A
ENST00000638281.1:c.994G>A ENSP00000491088.1:p.Glu332Lys
ENST00000638618.1:c.649G>A ENSP00000492832.1:p.Glu217Lys
ENST00000639277.1:c.994G>A ENSP00000492432.1:p.Glu332Lys
ENST00000640552.1:n.1008G>A
ENST00000253408.9:c.994G>A ENSP00000253408.4:p.Glu332Lys
ENST00000376990.8:c.*393G>A ENSP00000366189.4:n.*393G>A
ENST00000435360.6:c.994G>A ENSP00000403962.1:p.Glu332Lys
ENST00000585543.5:n.147G>A
ENST00000586793.5:c.994G>A ENSP00000468500.1:p.Glu332Lys
ENST00000587997.5:c.470G>A
ENST00000588640.5:n.374G>A
ENST00000588735.1:c.83-3253G>A ENSP00000466598.1:n.83-3253G>A
ENST00000592320.5:c.619-48G>A ENSP00000465320.1:n.619-48G>A
NM_001131019.2:c.994G>A NP_001124491.1:p.Glu332Lys
NM_001242376.1:c.994G>A NP_001229305.1:p.Glu332Lys
NM_002055.4:c.994G>A NP_002046.1:p.Glu332Lys
NM_001363846.1:c.994G>A NP_001350775.1:p.Glu332Lys
XM_024450690.1:c.1198G>A XP_024306458.1:p.Glu400Lys
XM_024450691.1:c.1198G>A XP_024306459.1:p.Glu400Lys
XM_024450692.1:c.1198G>A XP_024306460.1:p.Glu400Lys
XM_024450693.1:c.1198G>A XP_024306461.1:p.Glu400Lys
NM_002055.5:c.994G>A MANE Select NP_002046.1:p.Glu332Lys
NM_001131019.3:c.994G>A NP_001124491.1:p.Glu332Lys
NM_001242376.2:c.994G>A NP_001229305.1:p.Glu332Lys
NM_001242376.3:c.994G>A NP_001229305.1:p.Glu332Lys
NM_001363846.2:c.994G>A NP_001350775.1:p.Glu332Lys
Search 100 bp 5'
Search 100 bp 3'