Canonical Allele Identifier: CA399845603

Gene: GFAP

Linked Data

• dbSNP Id: rs2051815619
• gnomAD v4: 17-44913302-G-T
• MyVariant Identifiers: chr17:g.42990670G>T (hg19) ; chr17:g.44913302G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913302G>T , CM000679.2:g.44913302G>T	GRCh38
NC_000017.10:g.42990670G>T , CM000679.1:g.42990670G>T	GRCh37
NC_000017.9:g.40346196G>T	NCBI36
NG_008401.1:g.7245C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.747C>A	ENSP00000253408.5:p.Asn249Lys
ENST00000435360.8:c.747C>A	ENSP00000403962.1:p.Asn249Lys
ENST00000253408.10:c.747C>A	ENSP00000253408.5:p.Asn249Lys
ENST00000435360.7:c.747C>A	ENSP00000403962.1:p.Asn249Lys
ENST00000586127.6:n.1276C>A
ENST00000586793.6:c.747C>A	ENSP00000468500.2:p.Asn249Lys
ENST00000587997.6:n.223C>A
ENST00000588735.3:c.747C>A MANE Select	ENSP00000466598.2:p.Asn249Lys
ENST00000591327.2:n.1901C>A
ENST00000592320.6:c.618+426C>A	ENSP00000465320.1:n.618+426C>A
ENST00000638281.1:c.747C>A	ENSP00000491088.1:p.Asn249Lys
ENST00000638618.1:c.402C>A	ENSP00000492832.1:p.Asn134Lys
ENST00000639277.1:c.747C>A	ENSP00000492432.1:p.Asn249Lys
ENST00000640552.1:n.761C>A
ENST00000253408.9:c.747C>A	ENSP00000253408.4:p.Asn249Lys
ENST00000376990.8:c.*146C>A	ENSP00000366189.4:n.*146C>A
ENST00000435360.6:c.747C>A	ENSP00000403962.1:p.Asn249Lys
ENST00000586793.5:c.747C>A	ENSP00000468500.1:p.Asn249Lys
ENST00000587997.5:c.223C>A
ENST00000588316.1:c.651C>A	ENSP00000465629.1:p.Asn217Lys
ENST00000588735.1:c.82+2103C>A	ENSP00000466598.1:n.82+2103C>A
ENST00000588957.5:c.15C>A	ENSP00000465565.1:p.Asn5Lys
ENST00000590922.1:n.397C>A
ENST00000592320.5:c.618+426C>A	ENSP00000465320.1:n.618+426C>A
NM_001131019.2:c.747C>A	NP_001124491.1:p.Asn249Lys
NM_001242376.1:c.747C>A	NP_001229305.1:p.Asn249Lys
NM_002055.4:c.747C>A	NP_002046.1:p.Asn249Lys
NM_001363846.1:c.747C>A	NP_001350775.1:p.Asn249Lys
XM_024450690.1:c.951C>A	XP_024306458.1:p.Asn317Lys
XM_024450691.1:c.951C>A	XP_024306459.1:p.Asn317Lys
XM_024450692.1:c.951C>A	XP_024306460.1:p.Asn317Lys
XM_024450693.1:c.951C>A	XP_024306461.1:p.Asn317Lys
NM_002055.5:c.747C>A MANE Select	NP_002046.1:p.Asn249Lys
NM_001131019.3:c.747C>A	NP_001124491.1:p.Asn249Lys
NM_001242376.2:c.747C>A	NP_001229305.1:p.Asn249Lys
NM_001242376.3:c.747C>A	NP_001229305.1:p.Asn249Lys
NM_001363846.2:c.747C>A	NP_001350775.1:p.Asn249Lys