Canonical Allele Identifier: CA217233
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66513
ClinVar RCV Id: RCV000056917
dbSNP Id: rs267607513
MyVariant Identifiers: chr17:g.42988743G>C (hg19) chr17:g.44911375G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44911375G>C , CM000679.2:g.44911375G>C GRCh38
NC_000017.10:g.42988743G>C , CM000679.1:g.42988743G>C GRCh37
NC_000017.9:g.40344269G>C NCBI36
NG_008401.1:g.9172C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.988C>G ENSP00000253408.5:p.Arg330Gly
ENST00000435360.8:c.988C>G ENSP00000403962.1:p.Arg330Gly
ENST00000253408.10:c.988C>G ENSP00000253408.5:p.Arg330Gly
ENST00000435360.7:c.988C>G ENSP00000403962.1:p.Arg330Gly
ENST00000585543.6:n.141C>G
ENST00000586127.6:n.1517C>G
ENST00000586793.6:c.907-54C>G ENSP00000468500.2:n.907-54C>G
ENST00000587997.6:n.464C>G
ENST00000588735.3:c.988C>G MANE Select ENSP00000466598.2:p.Arg330Gly
ENST00000591327.2:n.2142C>G
ENST00000592320.6:c.619-54C>G ENSP00000465320.1:n.619-54C>G
ENST00000638281.1:c.988C>G ENSP00000491088.1:p.Arg330Gly
ENST00000638618.1:c.643C>G ENSP00000492832.1:p.Arg215Gly
ENST00000639277.1:c.988C>G ENSP00000492432.1:p.Arg330Gly
ENST00000640552.1:n.1002C>G
ENST00000253408.9:c.988C>G ENSP00000253408.4:p.Arg330Gly
ENST00000376990.8:c.*387C>G ENSP00000366189.4:n.*387C>G
ENST00000435360.6:c.988C>G ENSP00000403962.1:p.Arg330Gly
ENST00000585543.5:n.141C>G
ENST00000586793.5:c.988C>G ENSP00000468500.1:p.Arg330Gly
ENST00000587997.5:c.464C>G
ENST00000588640.5:n.368C>G
ENST00000588735.1:c.83-3259C>G ENSP00000466598.1:n.83-3259C>G
ENST00000592320.5:c.619-54C>G ENSP00000465320.1:n.619-54C>G
NM_001131019.2:c.988C>G NP_001124491.1:p.Arg330Gly
NM_001242376.1:c.988C>G NP_001229305.1:p.Arg330Gly
NM_002055.4:c.988C>G NP_002046.1:p.Arg330Gly
NM_001363846.1:c.988C>G NP_001350775.1:p.Arg330Gly
XM_024450690.1:c.1192C>G XP_024306458.1:p.Arg398Gly
XM_024450691.1:c.1192C>G XP_024306459.1:p.Arg398Gly
XM_024450692.1:c.1192C>G XP_024306460.1:p.Arg398Gly
XM_024450693.1:c.1192C>G XP_024306461.1:p.Arg398Gly
NM_002055.5:c.988C>G MANE Select NP_002046.1:p.Arg330Gly
NM_001131019.3:c.988C>G NP_001124491.1:p.Arg330Gly
NM_001242376.2:c.988C>G NP_001229305.1:p.Arg330Gly
NM_001242376.3:c.988C>G NP_001229305.1:p.Arg330Gly
NM_001363846.2:c.988C>G NP_001350775.1:p.Arg330Gly
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