Canonical Allele Identifier: CA399839027

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985481T>A (hg19) ; chr17:g.44908113T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908113T>A , CM000679.2:g.44908113T>A	GRCh38
NC_000017.10:g.42985481T>A , CM000679.1:g.42985481T>A	GRCh37
NC_000017.9:g.40341007T>A	NCBI36
NG_008401.1:g.12434A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1328A>T	ENSP00000253408.5:p.His443Leu
ENST00000253408.10:c.1328A>T	ENSP00000253408.5:p.His443Leu
ENST00000441312.2:n.61A>T
ENST00000585543.6:n.361A>T
ENST00000586125.2:c.143A>T	ENSP00000467397.2:p.His48Leu
ENST00000588735.3:c.1208A>T MANE Select	ENSP00000466598.2:p.His403Leu
ENST00000589701.2:n.2115A>T
ENST00000591880.2:c.307A>T
ENST00000592065.2:n.576A>T
ENST00000638304.1:c.127A>T
ENST00000638400.1:c.43A>T
ENST00000638488.1:n.672A>T
ENST00000638618.1:c.863A>T	ENSP00000492832.1:p.His288Leu
ENST00000638921.1:n.135A>T
ENST00000639042.1:c.180A>T
ENST00000639277.1:c.1208A>T	ENSP00000492432.1:p.His403Leu
ENST00000639369.1:c.58A>T
ENST00000640545.1:c.14A>T	ENSP00000491735.1:p.His5Leu
ENST00000640859.1:c.22A>T
ENST00000253408.9:c.1208A>T	ENSP00000253408.4:p.His403Leu
ENST00000585543.5:n.361A>T
ENST00000586125.1:c.179A>T	ENSP00000467397.1:p.His60Leu
ENST00000588735.1:c.86A>T	ENSP00000466598.1:p.His29Leu
ENST00000589701.1:n.110A>T
ENST00000591880.1:c.74A>T	ENSP00000467530.1:p.His25Leu
ENST00000592065.1:n.2A>T
ENST00000592706.5:n.80A>T
NM_002055.4:c.1208A>T	NP_002046.1:p.His403Leu
NM_001363846.1:c.1328A>T	NP_001350775.1:p.His443Leu
XM_024450690.1:c.1532A>T	XP_024306458.1:p.His511Leu
XM_024450692.1:c.1412A>T	XP_024306460.1:p.His471Leu
NM_002055.5:c.1208A>T MANE Select	NP_002046.1:p.His403Leu
NM_001363846.2:c.1328A>T	NP_001350775.1:p.His443Leu