Canonical Allele Identifier: CA291024867

Gene: GFAP

Linked Data

• dbSNP Id: rs267604911
• MyVariant Identifiers: chr17:g.42985513G>T (hg19) ; chr17:g.44908145G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908145G>T , CM000679.2:g.44908145G>T	GRCh38
NC_000017.10:g.42985513G>T , CM000679.1:g.42985513G>T	GRCh37
NC_000017.9:g.40341039G>T	NCBI36
NG_008401.1:g.12402C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1296C>A	ENSP00000253408.5:p.Thr432=
ENST00000253408.10:c.1296C>A	ENSP00000253408.5:p.Thr432=
ENST00000441312.2:n.29C>A
ENST00000585543.6:n.329C>A
ENST00000586125.2:c.111C>A	ENSP00000467397.2:p.Thr37=
ENST00000588735.3:c.1176C>A MANE Select	ENSP00000466598.2:p.Thr392=
ENST00000589701.2:n.2083C>A
ENST00000591880.2:c.275C>A
ENST00000592065.2:n.544C>A
ENST00000638304.1:c.95C>A
ENST00000638400.1:c.11C>A
ENST00000638488.1:n.640C>A
ENST00000638618.1:c.831C>A	ENSP00000492832.1:p.Thr277=
ENST00000638921.1:n.103C>A
ENST00000639042.1:c.148C>A
ENST00000639277.1:c.1176C>A	ENSP00000492432.1:p.Thr392=
ENST00000639369.1:c.26C>A
ENST00000253408.9:c.1176C>A	ENSP00000253408.4:p.Thr392=
ENST00000585543.5:n.329C>A
ENST00000586125.1:c.147C>A	ENSP00000467397.1:p.Thr49=
ENST00000588640.5:n.556C>A
ENST00000588735.1:c.83-29C>A	ENSP00000466598.1:n.83-29C>A
ENST00000589701.1:n.78C>A
ENST00000591880.1:c.42C>A	ENSP00000467530.1:p.Thr14=
ENST00000592706.5:n.48C>A
NM_002055.4:c.1176C>A	NP_002046.1:p.Thr392=
NM_001363846.1:c.1296C>A	NP_001350775.1:p.Thr432=
XM_024450690.1:c.1500C>A	XP_024306458.1:p.Thr500=
XM_024450692.1:c.1380C>A	XP_024306460.1:p.Thr460=
NM_002055.5:c.1176C>A MANE Select	NP_002046.1:p.Thr392=
NM_001363846.2:c.1296C>A	NP_001350775.1:p.Thr432=