Canonical Allele Identifier: CA399839094

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985494C>T (hg19) ; chr17:g.44908126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908126C>T , CM000679.2:g.44908126C>T	GRCh38
NC_000017.10:g.42985494C>T , CM000679.1:g.42985494C>T	GRCh37
NC_000017.9:g.40341020C>T	NCBI36
NG_008401.1:g.12421G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1315G>A	ENSP00000253408.5:p.Val439Met
ENST00000253408.10:c.1315G>A	ENSP00000253408.5:p.Val439Met
ENST00000441312.2:n.48G>A
ENST00000585543.6:n.348G>A
ENST00000586125.2:c.130G>A	ENSP00000467397.2:p.Val44Met
ENST00000588735.3:c.1195G>A MANE Select	ENSP00000466598.2:p.Val399Met
ENST00000589701.2:n.2102G>A
ENST00000591880.2:c.294G>A
ENST00000592065.2:n.563G>A
ENST00000638304.1:c.114G>A
ENST00000638400.1:c.30G>A
ENST00000638488.1:n.659G>A
ENST00000638618.1:c.850G>A	ENSP00000492832.1:p.Val284Met
ENST00000638921.1:n.122G>A
ENST00000639042.1:c.167G>A
ENST00000639277.1:c.1195G>A	ENSP00000492432.1:p.Val399Met
ENST00000639369.1:c.45G>A
ENST00000640545.1:c.1G>A	ENSP00000491735.1:p.Val1Met
ENST00000640859.1:c.9G>A
ENST00000253408.9:c.1195G>A	ENSP00000253408.4:p.Val399Met
ENST00000585543.5:n.348G>A
ENST00000586125.1:c.166G>A	ENSP00000467397.1:p.Val56Met
ENST00000588735.1:c.83-10G>A	ENSP00000466598.1:n.83-10G>A
ENST00000589701.1:n.97G>A
ENST00000591880.1:c.61G>A	ENSP00000467530.1:p.Val21Met
ENST00000592706.5:n.67G>A
NM_002055.4:c.1195G>A	NP_002046.1:p.Val399Met
NM_001363846.1:c.1315G>A	NP_001350775.1:p.Val439Met
XM_024450690.1:c.1519G>A	XP_024306458.1:p.Val507Met
XM_024450692.1:c.1399G>A	XP_024306460.1:p.Val467Met
NM_002055.5:c.1195G>A MANE Select	NP_002046.1:p.Val399Met
NM_001363846.2:c.1315G>A	NP_001350775.1:p.Val439Met