Canonical Allele Identifier: CA626225352

Gene: GFAP

Linked Data

• dbSNP Id: rs267604911
• gnomAD v2: 17-42985513-G-A
• gnomAD v3: 17-44908145-G-A
• gnomAD v4: 17-44908145-G-A
• MyVariant Identifiers: chr17:g.42985513G>A (hg19) ; chr17:g.44908145G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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