Canonical Allele Identifier: CA399838897

Gene: GFAP

Linked Data

• ClinVar Variation Id: 1715460
• ClinVar RCV Id: RCV002301247
• gnomAD v4: 17-44908093-C-A
• MyVariant Identifiers: chr17:g.42985461C>A (hg19) ; chr17:g.44908093C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908093C>A , CM000679.2:g.44908093C>A	GRCh38
NC_000017.10:g.42985461C>A , CM000679.1:g.42985461C>A	GRCh37
NC_000017.9:g.40340987C>A	NCBI36
NG_008401.1:g.12454G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1348G>T	ENSP00000253408.5:p.Val450Leu
ENST00000253408.10:c.1348G>T	ENSP00000253408.5:p.Val450Leu
ENST00000441312.2:n.81G>T
ENST00000585543.6:n.381G>T
ENST00000586125.2:c.163G>T	ENSP00000467397.2:p.Val55Leu
ENST00000588735.3:c.1228G>T MANE Select	ENSP00000466598.2:p.Val410Leu
ENST00000589701.2:n.2135G>T
ENST00000591880.2:c.327G>T
ENST00000592065.2:n.596G>T
ENST00000638304.1:c.147G>T
ENST00000638400.1:c.63G>T
ENST00000638488.1:n.692G>T
ENST00000638618.1:c.883G>T	ENSP00000492832.1:p.Val295Leu
ENST00000638921.1:n.155G>T
ENST00000639042.1:c.200G>T
ENST00000639277.1:c.1228G>T	ENSP00000492432.1:p.Val410Leu
ENST00000639369.1:c.78G>T
ENST00000640545.1:c.34G>T	ENSP00000491735.1:p.Val12Leu
ENST00000640859.1:c.42G>T
ENST00000253408.9:c.1228G>T	ENSP00000253408.4:p.Val410Leu
ENST00000585543.5:n.381G>T
ENST00000588735.1:c.106G>T	ENSP00000466598.1:p.Val36Leu
ENST00000589701.1:n.130G>T
ENST00000591880.1:c.94G>T	ENSP00000467530.1:p.Val32Leu
ENST00000592065.1:n.22G>T
ENST00000592706.5:n.100G>T
NM_002055.4:c.1228G>T	NP_002046.1:p.Val410Leu
NM_001363846.1:c.1348G>T	NP_001350775.1:p.Val450Leu
XM_024450690.1:c.1552G>T	XP_024306458.1:p.Val518Leu
XM_024450692.1:c.1432G>T	XP_024306460.1:p.Val478Leu
NM_002055.5:c.1228G>T MANE Select	NP_002046.1:p.Val410Leu
NM_001363846.2:c.1348G>T	NP_001350775.1:p.Val450Leu