Canonical Allele Identifier: CA8608914

Gene: GFAP

Linked Data

• dbSNP Id: rs770138978
• ExAC: 17:42990945 G / A
• gnomAD v2: 17-42990945-G-A
• gnomAD v4: 17-44913577-G-A
• MyVariant Identifiers: chr17:g.42990945G>A (hg19) ; chr17:g.44913577G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913577G>A , CM000679.2:g.44913577G>A	GRCh38
NC_000017.10:g.42990945G>A , CM000679.1:g.42990945G>A	GRCh37
NC_000017.9:g.40346471G>A	NCBI36
NG_008401.1:g.6970C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.619-147C>T	ENSP00000253408.5:n.619-147C>T
ENST00000435360.8:c.619-147C>T	ENSP00000403962.1:n.619-147C>T
ENST00000253408.10:c.619-147C>T	ENSP00000253408.5:n.619-147C>T
ENST00000435360.7:c.619-147C>T	ENSP00000403962.1:n.619-147C>T
ENST00000586127.6:n.1148-147C>T
ENST00000586793.6:c.619-147C>T	ENSP00000468500.2:n.619-147C>T
ENST00000587997.6:n.94+26C>T
ENST00000588735.3:c.619-147C>T MANE Select	ENSP00000466598.2:n.619-147C>T
ENST00000591327.2:n.1773-147C>T
ENST00000592320.6:c.618+151C>T	ENSP00000465320.1:n.618+151C>T
ENST00000638281.1:c.619-147C>T	ENSP00000491088.1:n.619-147C>T
ENST00000638618.1:c.274-147C>T	ENSP00000492832.1:n.274-147C>T
ENST00000639277.1:c.619-147C>T	ENSP00000492432.1:n.619-147C>T
ENST00000640552.1:n.633-147C>T
ENST00000253408.9:c.619-147C>T	ENSP00000253408.4:n.619-147C>T
ENST00000376990.8:c.*18-147C>T	ENSP00000366189.4:n.*18-147C>T
ENST00000435360.6:c.619-147C>T	ENSP00000403962.1:n.619-147C>T
ENST00000585728.5:c.*263-147C>T	ENSP00000465208.1:n.*263-147C>T
ENST00000586127.5:c.-43-147C>T	ENSP00000464795.1:n.-43-147C>T
ENST00000586793.5:c.619-147C>T	ENSP00000468500.1:n.619-147C>T
ENST00000587997.5:c.94+26C>T
ENST00000588316.1:c.523-147C>T	ENSP00000465629.1:n.523-147C>T
ENST00000588735.1:c.82+1828C>T	ENSP00000466598.1:n.82+1828C>T
ENST00000588957.5:c.-114-147C>T	ENSP00000465565.1:n.-114-147C>T
ENST00000590922.1:n.122C>T
ENST00000591327.1:n.572-147C>T
ENST00000592320.5:c.618+151C>T	ENSP00000465320.1:n.618+151C>T
NM_001131019.2:c.619-147C>T	NP_001124491.1:n.619-147C>T
NM_001242376.1:c.619-147C>T	NP_001229305.1:n.619-147C>T
NM_002055.4:c.619-147C>T	NP_002046.1:n.619-147C>T
NM_001363846.1:c.619-147C>T	NP_001350775.1:n.619-147C>T
XM_024450690.1:c.823-147C>T	XP_024306458.1:n.823-147C>T
XM_024450691.1:c.823-147C>T	XP_024306459.1:n.823-147C>T
XM_024450692.1:c.823-147C>T	XP_024306460.1:n.823-147C>T
XM_024450693.1:c.823-147C>T	XP_024306461.1:n.823-147C>T
NM_002055.5:c.619-147C>T MANE Select	NP_002046.1:n.619-147C>T
NM_001131019.3:c.619-147C>T	NP_001124491.1:n.619-147C>T
NM_001242376.2:c.619-147C>T	NP_001229305.1:n.619-147C>T
NM_001242376.3:c.619-147C>T	NP_001229305.1:n.619-147C>T
NM_001363846.2:c.619-147C>T	NP_001350775.1:n.619-147C>T