Canonical Allele Identifier: CA399845702

Gene: GFAP

Linked Data

• dbSNP Id: rs777180711
• gnomAD v3: 17-44913330-G-T
• gnomAD v4: 17-44913330-G-T
• MyVariant Identifiers: chr17:g.42990698G>T (hg19) ; chr17:g.44913330G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913330G>T , CM000679.2:g.44913330G>T	GRCh38
NC_000017.10:g.42990698G>T , CM000679.1:g.42990698G>T	GRCh37
NC_000017.9:g.40346224G>T	NCBI36
NG_008401.1:g.7217C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.719C>A	ENSP00000253408.5:p.Thr240Lys
ENST00000435360.8:c.719C>A	ENSP00000403962.1:p.Thr240Lys
ENST00000253408.10:c.719C>A	ENSP00000253408.5:p.Thr240Lys
ENST00000435360.7:c.719C>A	ENSP00000403962.1:p.Thr240Lys
ENST00000586127.6:n.1248C>A
ENST00000586793.6:c.719C>A	ENSP00000468500.2:p.Thr240Lys
ENST00000587997.6:n.195C>A
ENST00000588735.3:c.719C>A MANE Select	ENSP00000466598.2:p.Thr240Lys
ENST00000591327.2:n.1873C>A
ENST00000592320.6:c.618+398C>A	ENSP00000465320.1:n.618+398C>A
ENST00000638281.1:c.719C>A	ENSP00000491088.1:p.Thr240Lys
ENST00000638618.1:c.374C>A	ENSP00000492832.1:p.Thr125Lys
ENST00000639277.1:c.719C>A	ENSP00000492432.1:p.Thr240Lys
ENST00000640552.1:n.733C>A
ENST00000253408.9:c.719C>A	ENSP00000253408.4:p.Thr240Lys
ENST00000376990.8:c.*118C>A	ENSP00000366189.4:n.*118C>A
ENST00000435360.6:c.719C>A	ENSP00000403962.1:p.Thr240Lys
ENST00000585728.5:c.*363C>A	ENSP00000465208.1:n.*363C>A
ENST00000586793.5:c.719C>A	ENSP00000468500.1:p.Thr240Lys
ENST00000587997.5:c.195C>A
ENST00000588316.1:c.623C>A	ENSP00000465629.1:p.Thr208Lys
ENST00000588735.1:c.82+2075C>A	ENSP00000466598.1:n.82+2075C>A
ENST00000588957.5:c.-14C>A	ENSP00000465565.1:n.-14C>A
ENST00000590922.1:n.369C>A
ENST00000592320.5:c.618+398C>A	ENSP00000465320.1:n.618+398C>A
NM_001131019.2:c.719C>A	NP_001124491.1:p.Thr240Lys
NM_001242376.1:c.719C>A	NP_001229305.1:p.Thr240Lys
NM_002055.4:c.719C>A	NP_002046.1:p.Thr240Lys
NM_001363846.1:c.719C>A	NP_001350775.1:p.Thr240Lys
XM_024450690.1:c.923C>A	XP_024306458.1:p.Thr308Lys
XM_024450691.1:c.923C>A	XP_024306459.1:p.Thr308Lys
XM_024450692.1:c.923C>A	XP_024306460.1:p.Thr308Lys
XM_024450693.1:c.923C>A	XP_024306461.1:p.Thr308Lys
NM_002055.5:c.719C>A MANE Select	NP_002046.1:p.Thr240Lys
NM_001131019.3:c.719C>A	NP_001124491.1:p.Thr240Lys
NM_001242376.2:c.719C>A	NP_001229305.1:p.Thr240Lys
NM_001242376.3:c.719C>A	NP_001229305.1:p.Thr240Lys
NM_001363846.2:c.719C>A	NP_001350775.1:p.Thr240Lys