Canonical Allele Identifier: CA399839175

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985508A>C (hg19) ; chr17:g.44908140A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908140A>C , CM000679.2:g.44908140A>C	GRCh38
NC_000017.10:g.42985508A>C , CM000679.1:g.42985508A>C	GRCh37
NC_000017.9:g.40341034A>C	NCBI36
NG_008401.1:g.12407T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1301T>G	ENSP00000253408.5:p.Leu434Arg
ENST00000253408.10:c.1301T>G	ENSP00000253408.5:p.Leu434Arg
ENST00000441312.2:n.34T>G
ENST00000585543.6:n.334T>G
ENST00000586125.2:c.116T>G	ENSP00000467397.2:p.Leu39Arg
ENST00000588735.3:c.1181T>G MANE Select	ENSP00000466598.2:p.Leu394Arg
ENST00000589701.2:n.2088T>G
ENST00000591880.2:c.280T>G
ENST00000592065.2:n.549T>G
ENST00000638304.1:c.100T>G
ENST00000638400.1:c.16T>G
ENST00000638488.1:n.645T>G
ENST00000638618.1:c.836T>G	ENSP00000492832.1:p.Leu279Arg
ENST00000638921.1:n.108T>G
ENST00000639042.1:c.153T>G
ENST00000639277.1:c.1181T>G	ENSP00000492432.1:p.Leu394Arg
ENST00000639369.1:c.31T>G
ENST00000253408.9:c.1181T>G	ENSP00000253408.4:p.Leu394Arg
ENST00000585543.5:n.334T>G
ENST00000586125.1:c.152T>G	ENSP00000467397.1:p.Leu51Arg
ENST00000588640.5:n.561T>G
ENST00000588735.1:c.83-24T>G	ENSP00000466598.1:n.83-24T>G
ENST00000589701.1:n.83T>G
ENST00000591880.1:c.47T>G	ENSP00000467530.1:p.Leu16Arg
ENST00000592706.5:n.53T>G
NM_002055.4:c.1181T>G	NP_002046.1:p.Leu394Arg
NM_001363846.1:c.1301T>G	NP_001350775.1:p.Leu434Arg
XM_024450690.1:c.1505T>G	XP_024306458.1:p.Leu502Arg
XM_024450692.1:c.1385T>G	XP_024306460.1:p.Leu462Arg
NM_002055.5:c.1181T>G MANE Select	NP_002046.1:p.Leu394Arg
NM_001363846.2:c.1301T>G	NP_001350775.1:p.Leu434Arg