Canonical Allele Identifier: CA8608758

Gene: GFAP

Linked Data

• dbSNP Id: rs777722590
• ExAC: 17:42988615 G / A
• gnomAD v2: 17-42988615-G-A
• gnomAD v4: 17-44911247-G-A
• MyVariant Identifiers: chr17:g.42988615G>A (hg19) ; chr17:g.44911247G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911247G>A , CM000679.2:g.44911247G>A	GRCh38
NC_000017.10:g.42988615G>A , CM000679.1:g.42988615G>A	GRCh37
NC_000017.9:g.40344141G>A	NCBI36
NG_008401.1:g.9300C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1116C>T	ENSP00000253408.5:p.Gly372=
ENST00000435360.8:c.1116C>T	ENSP00000403962.1:p.Gly372=
ENST00000253408.10:c.1116C>T	ENSP00000253408.5:p.Gly372=
ENST00000435360.7:c.1116C>T	ENSP00000403962.1:p.Gly372=
ENST00000585543.6:n.269C>T
ENST00000586125.2:c.51C>T	ENSP00000467397.2:p.Gly17=
ENST00000586127.6:n.1645C>T
ENST00000586793.6:c.981C>T	ENSP00000468500.2:p.Gly327=
ENST00000587997.6:n.592C>T
ENST00000588735.3:c.1116C>T MANE Select	ENSP00000466598.2:p.Gly372=
ENST00000591327.2:n.2270C>T
ENST00000591880.2:c.46C>T
ENST00000592320.6:c.693C>T	ENSP00000465320.1:p.Gly231=
ENST00000638281.1:c.1116C>T	ENSP00000491088.1:p.Gly372=
ENST00000638304.1:c.35C>T
ENST00000638488.1:n.57C>T
ENST00000638618.1:c.771C>T	ENSP00000492832.1:p.Gly257=
ENST00000639042.1:c.53C>T
ENST00000639277.1:c.1116C>T	ENSP00000492432.1:p.Gly372=
ENST00000639921.1:c.73C>T
ENST00000640552.1:n.1130C>T
ENST00000253408.9:c.1116C>T	ENSP00000253408.4:p.Gly372=
ENST00000435360.6:c.1116C>T	ENSP00000403962.1:p.Gly372=
ENST00000585543.5:n.269C>T
ENST00000586793.5:c.1116C>T	ENSP00000468500.1:p.Gly372=
ENST00000588640.5:n.496C>T
ENST00000588735.1:c.83-3131C>T	ENSP00000466598.1:n.83-3131C>T
ENST00000592320.5:c.693C>T	ENSP00000465320.1:p.Gly231=
NM_001131019.2:c.1116C>T	NP_001124491.1:p.Gly372=
NM_001242376.1:c.1116C>T	NP_001229305.1:p.Gly372=
NM_002055.4:c.1116C>T	NP_002046.1:p.Gly372=
NM_001363846.1:c.1116C>T	NP_001350775.1:p.Gly372=
XM_024450690.1:c.1320C>T	XP_024306458.1:p.Gly440=
XM_024450691.1:c.1320C>T	XP_024306459.1:p.Gly440=
XM_024450692.1:c.1320C>T	XP_024306460.1:p.Gly440=
XM_024450693.1:c.1320C>T	XP_024306461.1:p.Gly440=
NM_002055.5:c.1116C>T MANE Select	NP_002046.1:p.Gly372=
NM_001131019.3:c.1116C>T	NP_001124491.1:p.Gly372=
NM_001242376.2:c.1116C>T	NP_001229305.1:p.Gly372=
NM_001242376.3:c.1116C>T	NP_001229305.1:p.Gly372=
NM_001363846.2:c.1116C>T	NP_001350775.1:p.Gly372=