Canonical Allele Identifier: CA217186
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66481
dbSNP Id: rs267607516

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44915185A>G , CM000679.2:g.44915185A>G GRCh38
NC_000017.10:g.42992553A>G , CM000679.1:g.42992553A>G GRCh37
NC_000017.9:g.40348079A>G NCBI36
NG_008401.1:g.5362T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.302T>C ENSP00000253408.5:p.Leu101Pro
ENST00000435360.8:c.302T>C ENSP00000403962.1:p.Leu101Pro
ENST00000253408.10:c.302T>C ENSP00000253408.5:p.Leu101Pro
ENST00000435360.7:c.302T>C ENSP00000403962.1:p.Leu101Pro
ENST00000586793.6:c.302T>C ENSP00000468500.2:p.Leu101Pro
ENST00000588735.3:c.302T>C MANE Select ENSP00000466598.2:p.Leu101Pro
ENST00000591327.2:n.315T>C
ENST00000592320.6:c.302T>C ENSP00000465320.1:p.Leu101Pro
ENST00000638281.1:n.302T>C ENSP00000491088.1:p.Leu101Pro
ENST00000639277.1:c.302T>C ENSP00000492432.1:p.Leu101Pro
ENST00000640552.1:n.316T>C
ENST00000253408.9:c.302T>C ENSP00000253408.4:p.Leu101Pro
ENST00000376990.8:c.302T>C ENSP00000366189.4:p.Leu101Pro
ENST00000435360.6:c.302T>C ENSP00000403962.1:p.Leu101Pro
ENST00000585728.5:c.182-50T>C ENSP00000465208.1:n.182-50T>C
ENST00000586793.5:c.302T>C ENSP00000468500.1:p.Leu101Pro
ENST00000588037.1:c.302T>C ENSP00000466163.1:p.Leu101Pro
ENST00000588316.1:c.302T>C ENSP00000465629.1:p.Leu101Pro
ENST00000588735.1:c.82+220T>C ENSP00000466598.1:n.82+220T>C
ENST00000588957.5:c.-272+632T>C ENSP00000465565.1:n.-272+632T>C
ENST00000591327.1:n.316T>C
ENST00000592320.5:c.302T>C ENSP00000465320.1:p.Leu101Pro
NM_001131019.2:c.302T>C NP_001124491.1:p.Leu101Pro
NM_001242376.1:c.302T>C NP_001229305.1:p.Leu101Pro
NM_002055.4:c.302T>C NP_002046.1:p.Leu101Pro
NM_001363846.1:c.302T>C NP_001350775.1:p.Leu101Pro
XM_024450690.1:c.302T>C XP_024306458.1:p.Leu101Pro
XM_024450691.1:c.302T>C XP_024306459.1:p.Leu101Pro
XM_024450692.1:c.302T>C XP_024306460.1:p.Leu101Pro
XM_024450693.1:c.302T>C XP_024306461.1:p.Leu101Pro
NM_002055.5:c.302T>C MANE Select NP_002046.1:p.Leu101Pro
NM_001131019.3:c.302T>C NP_001124491.1:p.Leu101Pro
NM_001242376.2:c.302T>C NP_001229305.1:p.Leu101Pro
NM_001242376.3:c.302T>C NP_001229305.1:p.Leu101Pro
NM_001363846.2:c.302T>C NP_001350775.1:p.Leu101Pro