Canonical Allele Identifier: CA8608792

Gene: GFAP

Linked Data

• dbSNP Id: rs762694136
• ExAC: 17:42988793 T / C
• gnomAD v2: 17-42988793-T-C
• gnomAD v4: 17-44911425-T-C
• MyVariant Identifiers: chr17:g.42988793T>C (hg19) ; chr17:g.44911425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911425T>C , CM000679.2:g.44911425T>C	GRCh38
NC_000017.10:g.42988793T>C , CM000679.1:g.42988793T>C	GRCh37
NC_000017.9:g.40344319T>C	NCBI36
NG_008401.1:g.9122A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.938A>G	ENSP00000253408.5:p.Gln313Arg
ENST00000435360.8:c.938A>G	ENSP00000403962.1:p.Gln313Arg
ENST00000253408.10:c.938A>G	ENSP00000253408.5:p.Gln313Arg
ENST00000435360.7:c.938A>G	ENSP00000403962.1:p.Gln313Arg
ENST00000585543.6:n.91A>G
ENST00000586127.6:n.1467A>G
ENST00000586793.6:c.907-104A>G	ENSP00000468500.2:n.907-104A>G
ENST00000587997.6:n.414A>G
ENST00000588735.3:c.938A>G MANE Select	ENSP00000466598.2:p.Gln313Arg
ENST00000591327.2:n.2092A>G
ENST00000592320.6:c.619-104A>G	ENSP00000465320.1:n.619-104A>G
ENST00000638281.1:c.938A>G	ENSP00000491088.1:p.Gln313Arg
ENST00000638618.1:c.593A>G	ENSP00000492832.1:p.Gln198Arg
ENST00000639277.1:c.938A>G	ENSP00000492432.1:p.Gln313Arg
ENST00000640552.1:n.952A>G
ENST00000253408.9:c.938A>G	ENSP00000253408.4:p.Gln313Arg
ENST00000376990.8:c.*337A>G	ENSP00000366189.4:n.*337A>G
ENST00000435360.6:c.938A>G	ENSP00000403962.1:p.Gln313Arg
ENST00000585543.5:n.91A>G
ENST00000586793.5:c.938A>G	ENSP00000468500.1:p.Gln313Arg
ENST00000587997.5:c.414A>G
ENST00000588640.5:n.318A>G
ENST00000588735.1:c.83-3309A>G	ENSP00000466598.1:n.83-3309A>G
ENST00000591719.5:n.572A>G
ENST00000592320.5:c.619-104A>G	ENSP00000465320.1:n.619-104A>G
NM_001131019.2:c.938A>G	NP_001124491.1:p.Gln313Arg
NM_001242376.1:c.938A>G	NP_001229305.1:p.Gln313Arg
NM_002055.4:c.938A>G	NP_002046.1:p.Gln313Arg
NM_001363846.1:c.938A>G	NP_001350775.1:p.Gln313Arg
XM_024450690.1:c.1142A>G	XP_024306458.1:p.Gln381Arg
XM_024450691.1:c.1142A>G	XP_024306459.1:p.Gln381Arg
XM_024450692.1:c.1142A>G	XP_024306460.1:p.Gln381Arg
XM_024450693.1:c.1142A>G	XP_024306461.1:p.Gln381Arg
NM_002055.5:c.938A>G MANE Select	NP_002046.1:p.Gln313Arg
NM_001131019.3:c.938A>G	NP_001124491.1:p.Gln313Arg
NM_001242376.2:c.938A>G	NP_001229305.1:p.Gln313Arg
NM_001242376.3:c.938A>G	NP_001229305.1:p.Gln313Arg
NM_001363846.2:c.938A>G	NP_001350775.1:p.Gln313Arg