Canonical Allele Identifier: CA399843310

Gene: GFAP

Linked Data

• COSMIC: COSM6390070 ; COSM6390071
• MyVariant Identifiers: chr17:g.42988607T>G (hg19) ; chr17:g.44911239T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911239T>G , CM000679.2:g.44911239T>G	GRCh38
NC_000017.10:g.42988607T>G , CM000679.1:g.42988607T>G	GRCh37
NC_000017.9:g.40344133T>G	NCBI36
NG_008401.1:g.9308A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1124A>C	ENSP00000253408.5:p.Asn375Thr
ENST00000435360.8:c.1124A>C	ENSP00000403962.1:p.Asn375Thr
ENST00000253408.10:c.1124A>C	ENSP00000253408.5:p.Asn375Thr
ENST00000435360.7:c.1124A>C	ENSP00000403962.1:p.Asn375Thr
ENST00000585543.6:n.277A>C
ENST00000586125.2:c.59A>C	ENSP00000467397.2:p.Asn20Thr
ENST00000586127.6:n.1653A>C
ENST00000586793.6:c.989A>C	ENSP00000468500.2:p.Asn330Thr
ENST00000587997.6:n.600A>C
ENST00000588735.3:c.1124A>C MANE Select	ENSP00000466598.2:p.Asn375Thr
ENST00000591327.2:n.2278A>C
ENST00000591880.2:c.54A>C
ENST00000592320.6:c.701A>C	ENSP00000465320.1:p.Asn234Thr
ENST00000638281.1:c.1124A>C	ENSP00000491088.1:p.Asn375Thr
ENST00000638304.1:c.43A>C
ENST00000638488.1:n.65A>C
ENST00000638618.1:c.779A>C	ENSP00000492832.1:p.Asn260Thr
ENST00000639042.1:c.61A>C
ENST00000639277.1:c.1124A>C	ENSP00000492432.1:p.Asn375Thr
ENST00000639921.1:c.81A>C
ENST00000640552.1:n.1138A>C
ENST00000253408.9:c.1124A>C	ENSP00000253408.4:p.Asn375Thr
ENST00000435360.6:c.1124A>C	ENSP00000403962.1:p.Asn375Thr
ENST00000585543.5:n.277A>C
ENST00000586793.5:c.1124A>C	ENSP00000468500.1:p.Asn375Thr
ENST00000588640.5:n.504A>C
ENST00000588735.1:c.83-3123A>C	ENSP00000466598.1:n.83-3123A>C
ENST00000592320.5:c.701A>C	ENSP00000465320.1:p.Asn234Thr
NM_001131019.2:c.1124A>C	NP_001124491.1:p.Asn375Thr
NM_001242376.1:c.1124A>C	NP_001229305.1:p.Asn375Thr
NM_002055.4:c.1124A>C	NP_002046.1:p.Asn375Thr
NM_001363846.1:c.1124A>C	NP_001350775.1:p.Asn375Thr
XM_024450690.1:c.1328A>C	XP_024306458.1:p.Asn443Thr
XM_024450691.1:c.1328A>C	XP_024306459.1:p.Asn443Thr
XM_024450692.1:c.1328A>C	XP_024306460.1:p.Asn443Thr
XM_024450693.1:c.1328A>C	XP_024306461.1:p.Asn443Thr
NM_002055.5:c.1124A>C MANE Select	NP_002046.1:p.Asn375Thr
NM_001131019.3:c.1124A>C	NP_001124491.1:p.Asn375Thr
NM_001242376.2:c.1124A>C	NP_001229305.1:p.Asn375Thr
NM_001242376.3:c.1124A>C	NP_001229305.1:p.Asn375Thr
NM_001363846.2:c.1124A>C	NP_001350775.1:p.Asn375Thr