Canonical Allele Identifier: CA399839188

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985511C>T (hg19) ; chr17:g.44908143C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908143C>T , CM000679.2:g.44908143C>T	GRCh38
NC_000017.10:g.42985511C>T , CM000679.1:g.42985511C>T	GRCh37
NC_000017.9:g.40341037C>T	NCBI36
NG_008401.1:g.12404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1298G>A	ENSP00000253408.5:p.Ser433Asn
ENST00000253408.10:c.1298G>A	ENSP00000253408.5:p.Ser433Asn
ENST00000441312.2:n.31G>A
ENST00000585543.6:n.331G>A
ENST00000586125.2:c.113G>A	ENSP00000467397.2:p.Ser38Asn
ENST00000588735.3:c.1178G>A MANE Select	ENSP00000466598.2:p.Ser393Asn
ENST00000589701.2:n.2085G>A
ENST00000591880.2:c.277G>A
ENST00000592065.2:n.546G>A
ENST00000638304.1:c.97G>A
ENST00000638400.1:c.13G>A
ENST00000638488.1:n.642G>A
ENST00000638618.1:c.833G>A	ENSP00000492832.1:p.Ser278Asn
ENST00000638921.1:n.105G>A
ENST00000639042.1:c.150G>A
ENST00000639277.1:c.1178G>A	ENSP00000492432.1:p.Ser393Asn
ENST00000639369.1:c.28G>A
ENST00000253408.9:c.1178G>A	ENSP00000253408.4:p.Ser393Asn
ENST00000585543.5:n.331G>A
ENST00000586125.1:c.149G>A	ENSP00000467397.1:p.Ser50Asn
ENST00000588640.5:n.558G>A
ENST00000588735.1:c.83-27G>A	ENSP00000466598.1:n.83-27G>A
ENST00000589701.1:n.80G>A
ENST00000591880.1:c.44G>A	ENSP00000467530.1:p.Ser15Asn
ENST00000592706.5:n.50G>A
NM_002055.4:c.1178G>A	NP_002046.1:p.Ser393Asn
NM_001363846.1:c.1298G>A	NP_001350775.1:p.Ser433Asn
XM_024450690.1:c.1502G>A	XP_024306458.1:p.Ser501Asn
XM_024450692.1:c.1382G>A	XP_024306460.1:p.Ser461Asn
NM_002055.5:c.1178G>A MANE Select	NP_002046.1:p.Ser393Asn
NM_001363846.2:c.1298G>A	NP_001350775.1:p.Ser433Asn