Canonical Allele Identifier: CA399839199

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42985514G>A (hg19) ; chr17:g.44908146G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908146G>A , CM000679.2:g.44908146G>A	GRCh38
NC_000017.10:g.42985514G>A , CM000679.1:g.42985514G>A	GRCh37
NC_000017.9:g.40341040G>A	NCBI36
NG_008401.1:g.12401C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1295C>T	ENSP00000253408.5:p.Thr432Ile
ENST00000253408.10:c.1295C>T	ENSP00000253408.5:p.Thr432Ile
ENST00000441312.2:n.28C>T
ENST00000585543.6:n.328C>T
ENST00000586125.2:c.110C>T	ENSP00000467397.2:p.Thr37Ile
ENST00000588735.3:c.1175C>T MANE Select	ENSP00000466598.2:p.Thr392Ile
ENST00000589701.2:n.2082C>T
ENST00000591880.2:c.274C>T
ENST00000592065.2:n.543C>T
ENST00000638304.1:c.94C>T
ENST00000638400.1:c.10C>T
ENST00000638488.1:n.639C>T
ENST00000638618.1:c.830C>T	ENSP00000492832.1:p.Thr277Ile
ENST00000638921.1:n.102C>T
ENST00000639042.1:c.147C>T
ENST00000639277.1:c.1175C>T	ENSP00000492432.1:p.Thr392Ile
ENST00000639369.1:c.25C>T
ENST00000253408.9:c.1175C>T	ENSP00000253408.4:p.Thr392Ile
ENST00000585543.5:n.328C>T
ENST00000586125.1:c.146C>T	ENSP00000467397.1:p.Thr49Ile
ENST00000588640.5:n.555C>T
ENST00000588735.1:c.83-30C>T	ENSP00000466598.1:n.83-30C>T
ENST00000589701.1:n.77C>T
ENST00000591880.1:c.41C>T	ENSP00000467530.1:p.Thr14Ile
ENST00000592706.5:n.47C>T
NM_002055.4:c.1175C>T	NP_002046.1:p.Thr392Ile
NM_001363846.1:c.1295C>T	NP_001350775.1:p.Thr432Ile
XM_024450690.1:c.1499C>T	XP_024306458.1:p.Thr500Ile
XM_024450692.1:c.1379C>T	XP_024306460.1:p.Thr460Ile
NM_002055.5:c.1175C>T MANE Select	NP_002046.1:p.Thr392Ile
NM_001363846.2:c.1295C>T	NP_001350775.1:p.Thr432Ile