Canonical Allele Identifier: CA399838857

Gene: GFAP

Linked Data

• ClinVar Variation Id: 1712750
• ClinVar RCV Id: RCV002300922
• MyVariant Identifiers: chr17:g.42985454G>C (hg19) ; chr17:g.44908086G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908086G>C , CM000679.2:g.44908086G>C	GRCh38
NC_000017.10:g.42985454G>C , CM000679.1:g.42985454G>C	GRCh37
NC_000017.9:g.40340980G>C	NCBI36
NG_008401.1:g.12461C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1355C>G	ENSP00000253408.5:p.Thr452Ser
ENST00000253408.10:c.1355C>G	ENSP00000253408.5:p.Thr452Ser
ENST00000441312.2:n.88C>G
ENST00000585543.6:n.388C>G
ENST00000586125.2:c.170C>G	ENSP00000467397.2:p.Thr57Ser
ENST00000588735.3:c.1235C>G MANE Select	ENSP00000466598.2:p.Thr412Ser
ENST00000589701.2:n.2142C>G
ENST00000591880.2:c.334C>G
ENST00000592065.2:n.603C>G
ENST00000638304.1:c.154C>G
ENST00000638400.1:c.70C>G
ENST00000638488.1:n.699C>G
ENST00000638618.1:c.890C>G	ENSP00000492832.1:p.Thr297Ser
ENST00000638921.1:n.162C>G
ENST00000639042.1:c.207C>G
ENST00000639277.1:c.1235C>G	ENSP00000492432.1:p.Thr412Ser
ENST00000639369.1:c.85C>G
ENST00000640545.1:c.41C>G	ENSP00000491735.1:p.Thr14Ser
ENST00000640859.1:c.49C>G
ENST00000253408.9:c.1235C>G	ENSP00000253408.4:p.Thr412Ser
ENST00000585543.5:n.388C>G
ENST00000588735.1:c.113C>G	ENSP00000466598.1:p.Thr38Ser
ENST00000589701.1:n.137C>G
ENST00000591880.1:c.101C>G	ENSP00000467530.1:p.Thr34Ser
ENST00000592065.1:n.29C>G
ENST00000592706.5:n.107C>G
NM_002055.4:c.1235C>G	NP_002046.1:p.Thr412Ser
NM_001363846.1:c.1355C>G	NP_001350775.1:p.Thr452Ser
XM_024450690.1:c.1559C>G	XP_024306458.1:p.Thr520Ser
XM_024450692.1:c.1439C>G	XP_024306460.1:p.Thr480Ser
NM_002055.5:c.1235C>G MANE Select	NP_002046.1:p.Thr412Ser
NM_001363846.2:c.1355C>G	NP_001350775.1:p.Thr452Ser