Canonical Allele Identifier: CA399838965

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985471C>A (hg19) ; chr17:g.44908103C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908103C>A , CM000679.2:g.44908103C>A	GRCh38
NC_000017.10:g.42985471C>A , CM000679.1:g.42985471C>A	GRCh37
NC_000017.9:g.40340997C>A	NCBI36
NG_008401.1:g.12444G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1338G>T	ENSP00000253408.5:p.Arg446Ser
ENST00000253408.10:c.1338G>T	ENSP00000253408.5:p.Arg446Ser
ENST00000441312.2:n.71G>T
ENST00000585543.6:n.371G>T
ENST00000586125.2:c.153G>T	ENSP00000467397.2:p.Arg51Ser
ENST00000588735.3:c.1218G>T MANE Select	ENSP00000466598.2:p.Arg406Ser
ENST00000589701.2:n.2125G>T
ENST00000591880.2:c.317G>T
ENST00000592065.2:n.586G>T
ENST00000638304.1:c.137G>T
ENST00000638400.1:c.53G>T
ENST00000638488.1:n.682G>T
ENST00000638618.1:c.873G>T	ENSP00000492832.1:p.Arg291Ser
ENST00000638921.1:n.145G>T
ENST00000639042.1:c.190G>T
ENST00000639277.1:c.1218G>T	ENSP00000492432.1:p.Arg406Ser
ENST00000639369.1:c.68G>T
ENST00000640545.1:c.24G>T	ENSP00000491735.1:p.Arg8Ser
ENST00000640859.1:c.32G>T
ENST00000253408.9:c.1218G>T	ENSP00000253408.4:p.Arg406Ser
ENST00000585543.5:n.371G>T
ENST00000586125.1:c.189G>T	ENSP00000467397.1:p.Arg63Ser
ENST00000588735.1:c.96G>T	ENSP00000466598.1:p.Arg32Ser
ENST00000589701.1:n.120G>T
ENST00000591880.1:c.84G>T	ENSP00000467530.1:p.Arg28Ser
ENST00000592065.1:n.12G>T
ENST00000592706.5:n.90G>T
NM_002055.4:c.1218G>T	NP_002046.1:p.Arg406Ser
NM_001363846.1:c.1338G>T	NP_001350775.1:p.Arg446Ser
XM_024450690.1:c.1542G>T	XP_024306458.1:p.Arg514Ser
XM_024450692.1:c.1422G>T	XP_024306460.1:p.Arg474Ser
NM_002055.5:c.1218G>T MANE Select	NP_002046.1:p.Arg406Ser
NM_001363846.2:c.1338G>T	NP_001350775.1:p.Arg446Ser