Canonical Allele Identifier: CA291030827

Gene: GFAP

Linked Data

• dbSNP Id: rs376298377
• gnomAD v3: 17-44913354-G-A
• gnomAD v4: 17-44913354-G-A
• MyVariant Identifiers: chr17:g.42990722G>A (hg19) ; chr17:g.44913354G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913354G>A , CM000679.2:g.44913354G>A	GRCh38
NC_000017.10:g.42990722G>A , CM000679.1:g.42990722G>A	GRCh37
NC_000017.9:g.40346248G>A	NCBI36
NG_008401.1:g.7193C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.695C>T	ENSP00000253408.5:p.Thr232Ile
ENST00000435360.8:c.695C>T	ENSP00000403962.1:p.Thr232Ile
ENST00000253408.10:c.695C>T	ENSP00000253408.5:p.Thr232Ile
ENST00000435360.7:c.695C>T	ENSP00000403962.1:p.Thr232Ile
ENST00000586127.6:n.1224C>T
ENST00000586793.6:c.695C>T	ENSP00000468500.2:p.Thr232Ile
ENST00000587997.6:n.171C>T
ENST00000588735.3:c.695C>T MANE Select	ENSP00000466598.2:p.Thr232Ile
ENST00000591327.2:n.1849C>T
ENST00000592320.6:c.618+374C>T	ENSP00000465320.1:n.618+374C>T
ENST00000638281.1:c.695C>T	ENSP00000491088.1:p.Thr232Ile
ENST00000638618.1:c.350C>T	ENSP00000492832.1:p.Thr117Ile
ENST00000639277.1:c.695C>T	ENSP00000492432.1:p.Thr232Ile
ENST00000640552.1:n.709C>T
ENST00000253408.9:c.695C>T	ENSP00000253408.4:p.Thr232Ile
ENST00000376990.8:c.*94C>T	ENSP00000366189.4:n.*94C>T
ENST00000435360.6:c.695C>T	ENSP00000403962.1:p.Thr232Ile
ENST00000585728.5:c.*339C>T	ENSP00000465208.1:n.*339C>T
ENST00000586127.5:c.34C>T	ENSP00000464795.1:p.Pro12Ser
ENST00000586793.5:c.695C>T	ENSP00000468500.1:p.Thr232Ile
ENST00000587997.5:c.171C>T
ENST00000588316.1:c.599C>T	ENSP00000465629.1:p.Thr200Ile
ENST00000588735.1:c.82+2051C>T	ENSP00000466598.1:n.82+2051C>T
ENST00000588957.5:c.-38C>T	ENSP00000465565.1:n.-38C>T
ENST00000590922.1:n.345C>T
ENST00000592320.5:c.618+374C>T	ENSP00000465320.1:n.618+374C>T
NM_001131019.2:c.695C>T	NP_001124491.1:p.Thr232Ile
NM_001242376.1:c.695C>T	NP_001229305.1:p.Thr232Ile
NM_002055.4:c.695C>T	NP_002046.1:p.Thr232Ile
NM_001363846.1:c.695C>T	NP_001350775.1:p.Thr232Ile
XM_024450690.1:c.899C>T	XP_024306458.1:p.Thr300Ile
XM_024450691.1:c.899C>T	XP_024306459.1:p.Thr300Ile
XM_024450692.1:c.899C>T	XP_024306460.1:p.Thr300Ile
XM_024450693.1:c.899C>T	XP_024306461.1:p.Thr300Ile
NM_002055.5:c.695C>T MANE Select	NP_002046.1:p.Thr232Ile
NM_001131019.3:c.695C>T	NP_001124491.1:p.Thr232Ile
NM_001242376.2:c.695C>T	NP_001229305.1:p.Thr232Ile
NM_001242376.3:c.695C>T	NP_001229305.1:p.Thr232Ile
NM_001363846.2:c.695C>T	NP_001350775.1:p.Thr232Ile