Canonical Allele Identifier: CA217121

Gene: GFAP

Linked Data

• ClinVar Variation Id: 66442
• ClinVar RCV Id: RCV000056836
• dbSNP Id: rs267607512
• MyVariant Identifiers: chr17:g.42988605G>C (hg19) ; chr17:g.44911237G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911237G>C , CM000679.2:g.44911237G>C	GRCh38
NC_000017.10:g.42988605G>C , CM000679.1:g.42988605G>C	GRCh37
NC_000017.9:g.40344131G>C	NCBI36
NG_008401.1:g.9310C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1126C>G	ENSP00000253408.5:p.Arg376Gly
ENST00000435360.8:c.1126C>G	ENSP00000403962.1:p.Arg376Gly
ENST00000253408.10:c.1126C>G	ENSP00000253408.5:p.Arg376Gly
ENST00000435360.7:c.1126C>G	ENSP00000403962.1:p.Arg376Gly
ENST00000585543.6:n.279C>G
ENST00000586125.2:c.61C>G	ENSP00000467397.2:p.Arg21Gly
ENST00000586127.6:n.1655C>G
ENST00000586793.6:c.991C>G	ENSP00000468500.2:p.Arg331Gly
ENST00000587997.6:n.602C>G
ENST00000588735.3:c.1126C>G MANE Select	ENSP00000466598.2:p.Arg376Gly
ENST00000591327.2:n.2280C>G
ENST00000591880.2:c.56C>G
ENST00000592320.6:c.703C>G	ENSP00000465320.1:p.Arg235Gly
ENST00000638281.1:c.1126C>G	ENSP00000491088.1:p.Arg376Gly
ENST00000638304.1:c.45C>G
ENST00000638488.1:n.67C>G
ENST00000638618.1:c.781C>G	ENSP00000492832.1:p.Arg261Gly
ENST00000639042.1:c.63C>G
ENST00000639277.1:c.1126C>G	ENSP00000492432.1:p.Arg376Gly
ENST00000639921.1:c.83C>G
ENST00000640552.1:n.1140C>G
ENST00000253408.9:c.1126C>G	ENSP00000253408.4:p.Arg376Gly
ENST00000435360.6:c.1126C>G	ENSP00000403962.1:p.Arg376Gly
ENST00000585543.5:n.279C>G
ENST00000586793.5:c.1126C>G	ENSP00000468500.1:p.Arg376Gly
ENST00000588640.5:n.506C>G
ENST00000588735.1:c.83-3121C>G	ENSP00000466598.1:n.83-3121C>G
ENST00000592320.5:c.703C>G	ENSP00000465320.1:p.Arg235Gly
NM_001131019.2:c.1126C>G	NP_001124491.1:p.Arg376Gly
NM_001242376.1:c.1126C>G	NP_001229305.1:p.Arg376Gly
NM_002055.4:c.1126C>G	NP_002046.1:p.Arg376Gly
NM_001363846.1:c.1126C>G	NP_001350775.1:p.Arg376Gly
XM_024450690.1:c.1330C>G	XP_024306458.1:p.Arg444Gly
XM_024450691.1:c.1330C>G	XP_024306459.1:p.Arg444Gly
XM_024450692.1:c.1330C>G	XP_024306460.1:p.Arg444Gly
XM_024450693.1:c.1330C>G	XP_024306461.1:p.Arg444Gly
NM_002055.5:c.1126C>G MANE Select	NP_002046.1:p.Arg376Gly
NM_001131019.3:c.1126C>G	NP_001124491.1:p.Arg376Gly
NM_001242376.2:c.1126C>G	NP_001229305.1:p.Arg376Gly
NM_001242376.3:c.1126C>G	NP_001229305.1:p.Arg376Gly
NM_001363846.2:c.1126C>G	NP_001350775.1:p.Arg376Gly