Canonical Allele Identifier: CA399844182

Gene: GFAP

Linked Data

• dbSNP Id: rs1418225076
• gnomAD v2: 17-42988746-C-T
• gnomAD v4: 17-44911378-C-T
• MyVariant Identifiers: chr17:g.42988746C>T (hg19) ; chr17:g.44911378C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911378C>T , CM000679.2:g.44911378C>T	GRCh38
NC_000017.10:g.42988746C>T , CM000679.1:g.42988746C>T	GRCh37
NC_000017.9:g.40344272C>T	NCBI36
NG_008401.1:g.9169G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.985G>A	ENSP00000253408.5:p.Ala329Thr
ENST00000435360.8:c.985G>A	ENSP00000403962.1:p.Ala329Thr
ENST00000253408.10:c.985G>A	ENSP00000253408.5:p.Ala329Thr
ENST00000435360.7:c.985G>A	ENSP00000403962.1:p.Ala329Thr
ENST00000585543.6:n.138G>A
ENST00000586127.6:n.1514G>A
ENST00000586793.6:c.907-57G>A	ENSP00000468500.2:n.907-57G>A
ENST00000587997.6:n.461G>A
ENST00000588735.3:c.985G>A MANE Select	ENSP00000466598.2:p.Ala329Thr
ENST00000591327.2:n.2139G>A
ENST00000592320.6:c.619-57G>A	ENSP00000465320.1:n.619-57G>A
ENST00000638281.1:c.985G>A	ENSP00000491088.1:p.Ala329Thr
ENST00000638618.1:c.640G>A	ENSP00000492832.1:p.Ala214Thr
ENST00000639277.1:c.985G>A	ENSP00000492432.1:p.Ala329Thr
ENST00000640552.1:n.999G>A
ENST00000253408.9:c.985G>A	ENSP00000253408.4:p.Ala329Thr
ENST00000376990.8:c.*384G>A	ENSP00000366189.4:n.*384G>A
ENST00000435360.6:c.985G>A	ENSP00000403962.1:p.Ala329Thr
ENST00000585543.5:n.138G>A
ENST00000586793.5:c.985G>A	ENSP00000468500.1:p.Ala329Thr
ENST00000587997.5:c.461G>A
ENST00000588640.5:n.365G>A
ENST00000588735.1:c.83-3262G>A	ENSP00000466598.1:n.83-3262G>A
ENST00000592320.5:c.619-57G>A	ENSP00000465320.1:n.619-57G>A
NM_001131019.2:c.985G>A	NP_001124491.1:p.Ala329Thr
NM_001242376.1:c.985G>A	NP_001229305.1:p.Ala329Thr
NM_002055.4:c.985G>A	NP_002046.1:p.Ala329Thr
NM_001363846.1:c.985G>A	NP_001350775.1:p.Ala329Thr
XM_024450690.1:c.1189G>A	XP_024306458.1:p.Ala397Thr
XM_024450691.1:c.1189G>A	XP_024306459.1:p.Ala397Thr
XM_024450692.1:c.1189G>A	XP_024306460.1:p.Ala397Thr
XM_024450693.1:c.1189G>A	XP_024306461.1:p.Ala397Thr
NM_002055.5:c.985G>A MANE Select	NP_002046.1:p.Ala329Thr
NM_001131019.3:c.985G>A	NP_001124491.1:p.Ala329Thr
NM_001242376.2:c.985G>A	NP_001229305.1:p.Ala329Thr
NM_001242376.3:c.985G>A	NP_001229305.1:p.Ala329Thr
NM_001363846.2:c.985G>A	NP_001350775.1:p.Ala329Thr