Canonical Allele Identifier: CA217215
Gene: GFAP HGNC NCBI

Linked Data

ClinVar Variation Id: 66501
dbSNP Id: rs267607519

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44913310A>G , CM000679.2:g.44913310A>G GRCh38
NC_000017.10:g.42990678A>G , CM000679.1:g.42990678A>G GRCh37
NC_000017.9:g.40346204A>G NCBI36
NG_008401.1:g.7237T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000253408.11:c.739T>C ENSP00000253408.5:p.Ser247Pro
ENST00000435360.8:c.739T>C ENSP00000403962.1:p.Ser247Pro
ENST00000253408.10:c.739T>C ENSP00000253408.5:p.Ser247Pro
ENST00000435360.7:c.739T>C ENSP00000403962.1:p.Ser247Pro
ENST00000586127.6:n.1268T>C
ENST00000586793.6:c.739T>C ENSP00000468500.2:p.Ser247Pro
ENST00000587997.6:n.215T>C
ENST00000588735.3:c.739T>C MANE Select ENSP00000466598.2:p.Ser247Pro
ENST00000591327.2:n.1893T>C
ENST00000592320.6:c.618+418T>C ENSP00000465320.1:n.618+418T>C
ENST00000638281.1:c.739T>C ENSP00000491088.1:p.Ser247Pro
ENST00000638618.1:c.394T>C ENSP00000492832.1:p.Ser132Pro
ENST00000639277.1:c.739T>C ENSP00000492432.1:p.Ser247Pro
ENST00000640552.1:n.753T>C
ENST00000253408.9:c.739T>C ENSP00000253408.4:p.Ser247Pro
ENST00000376990.8:c.*138T>C ENSP00000366189.4:n.*138T>C
ENST00000435360.6:c.739T>C ENSP00000403962.1:p.Ser247Pro
ENST00000586793.5:c.739T>C ENSP00000468500.1:p.Ser247Pro
ENST00000587997.5:c.215T>C
ENST00000588316.1:c.643T>C ENSP00000465629.1:p.Ser215Pro
ENST00000588735.1:c.82+2095T>C ENSP00000466598.1:n.82+2095T>C
ENST00000588957.5:c.7T>C ENSP00000465565.1:p.Ser3Pro
ENST00000590922.1:n.389T>C
ENST00000592320.5:c.618+418T>C ENSP00000465320.1:n.618+418T>C
NM_001131019.2:c.739T>C NP_001124491.1:p.Ser247Pro
NM_001242376.1:c.739T>C NP_001229305.1:p.Ser247Pro
NM_002055.4:c.739T>C NP_002046.1:p.Ser247Pro
NM_001363846.1:c.739T>C NP_001350775.1:p.Ser247Pro
XM_024450690.1:c.943T>C XP_024306458.1:p.Ser315Pro
XM_024450691.1:c.943T>C XP_024306459.1:p.Ser315Pro
XM_024450692.1:c.943T>C XP_024306460.1:p.Ser315Pro
XM_024450693.1:c.943T>C XP_024306461.1:p.Ser315Pro
NM_002055.5:c.739T>C MANE Select NP_002046.1:p.Ser247Pro
NM_001131019.3:c.739T>C NP_001124491.1:p.Ser247Pro
NM_001242376.2:c.739T>C NP_001229305.1:p.Ser247Pro
NM_001242376.3:c.739T>C NP_001229305.1:p.Ser247Pro
NM_001363846.2:c.739T>C NP_001350775.1:p.Ser247Pro