Canonical Allele Identifier: CA399845403

Gene: GFAP

Linked Data

• MyVariant Identifiers: chr17:g.42990637C>A (hg19) ; chr17:g.44913269C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913269C>A , CM000679.2:g.44913269C>A	GRCh38
NC_000017.10:g.42990637C>A , CM000679.1:g.42990637C>A	GRCh37
NC_000017.9:g.40346163C>A	NCBI36
NG_008401.1:g.7278G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.780G>T	ENSP00000253408.5:p.Lys260Asn
ENST00000435360.8:c.780G>T	ENSP00000403962.1:p.Lys260Asn
ENST00000253408.10:c.780G>T	ENSP00000253408.5:p.Lys260Asn
ENST00000435360.7:c.780G>T	ENSP00000403962.1:p.Lys260Asn
ENST00000586127.6:n.1309G>T
ENST00000586793.6:c.780G>T	ENSP00000468500.2:p.Lys260Asn
ENST00000587997.6:n.256G>T
ENST00000588735.3:c.780G>T MANE Select	ENSP00000466598.2:p.Lys260Asn
ENST00000591327.2:n.1934G>T
ENST00000592320.6:c.618+459G>T	ENSP00000465320.1:n.618+459G>T
ENST00000638281.1:c.780G>T	ENSP00000491088.1:p.Lys260Asn
ENST00000638618.1:c.435G>T	ENSP00000492832.1:p.Lys145Asn
ENST00000639277.1:c.780G>T	ENSP00000492432.1:p.Lys260Asn
ENST00000640552.1:n.794G>T
ENST00000253408.9:c.780G>T	ENSP00000253408.4:p.Lys260Asn
ENST00000376990.8:c.*179G>T	ENSP00000366189.4:n.*179G>T
ENST00000435360.6:c.780G>T	ENSP00000403962.1:p.Lys260Asn
ENST00000586793.5:c.780G>T	ENSP00000468500.1:p.Lys260Asn
ENST00000587997.5:c.256G>T
ENST00000588316.1:c.684G>T	ENSP00000465629.1:p.Lys228Asn
ENST00000588735.1:c.82+2136G>T	ENSP00000466598.1:n.82+2136G>T
ENST00000588957.5:c.48G>T	ENSP00000465565.1:p.Lys16Asn
ENST00000590922.1:n.430G>T
ENST00000592320.5:c.618+459G>T	ENSP00000465320.1:n.618+459G>T
NM_001131019.2:c.780G>T	NP_001124491.1:p.Lys260Asn
NM_001242376.1:c.780G>T	NP_001229305.1:p.Lys260Asn
NM_002055.4:c.780G>T	NP_002046.1:p.Lys260Asn
NM_001363846.1:c.780G>T	NP_001350775.1:p.Lys260Asn
XM_024450690.1:c.984G>T	XP_024306458.1:p.Lys328Asn
XM_024450691.1:c.984G>T	XP_024306459.1:p.Lys328Asn
XM_024450692.1:c.984G>T	XP_024306460.1:p.Lys328Asn
XM_024450693.1:c.984G>T	XP_024306461.1:p.Lys328Asn
NM_002055.5:c.780G>T MANE Select	NP_002046.1:p.Lys260Asn
NM_001131019.3:c.780G>T	NP_001124491.1:p.Lys260Asn
NM_001242376.2:c.780G>T	NP_001229305.1:p.Lys260Asn
NM_001242376.3:c.780G>T	NP_001229305.1:p.Lys260Asn
NM_001363846.2:c.780G>T	NP_001350775.1:p.Lys260Asn