Canonical Allele Identifier: CA399845755

Gene: GFAP

Linked Data

• dbSNP Id: rs1353739896
• gnomAD v2: 17-42990716-G-T
• gnomAD v4: 17-44913348-G-T
• MyVariant Identifiers: chr17:g.42990716G>T (hg19) ; chr17:g.44913348G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913348G>T , CM000679.2:g.44913348G>T	GRCh38
NC_000017.10:g.42990716G>T , CM000679.1:g.42990716G>T	GRCh37
NC_000017.9:g.40346242G>T	NCBI36
NG_008401.1:g.7199C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.701C>A	ENSP00000253408.5:p.Ala234Asp
ENST00000435360.8:c.701C>A	ENSP00000403962.1:p.Ala234Asp
ENST00000253408.10:c.701C>A	ENSP00000253408.5:p.Ala234Asp
ENST00000435360.7:c.701C>A	ENSP00000403962.1:p.Ala234Asp
ENST00000586127.6:n.1230C>A
ENST00000586793.6:c.701C>A	ENSP00000468500.2:p.Ala234Asp
ENST00000587997.6:n.177C>A
ENST00000588735.3:c.701C>A MANE Select	ENSP00000466598.2:p.Ala234Asp
ENST00000591327.2:n.1855C>A
ENST00000592320.6:c.618+380C>A	ENSP00000465320.1:n.618+380C>A
ENST00000638281.1:c.701C>A	ENSP00000491088.1:p.Ala234Asp
ENST00000638618.1:c.356C>A	ENSP00000492832.1:p.Ala119Asp
ENST00000639277.1:c.701C>A	ENSP00000492432.1:p.Ala234Asp
ENST00000640552.1:n.715C>A
ENST00000253408.9:c.701C>A	ENSP00000253408.4:p.Ala234Asp
ENST00000376990.8:c.*100C>A	ENSP00000366189.4:n.*100C>A
ENST00000435360.6:c.701C>A	ENSP00000403962.1:p.Ala234Asp
ENST00000585728.5:c.*345C>A	ENSP00000465208.1:n.*345C>A
ENST00000586793.5:c.701C>A	ENSP00000468500.1:p.Ala234Asp
ENST00000587997.5:c.177C>A
ENST00000588316.1:c.605C>A	ENSP00000465629.1:p.Ala202Asp
ENST00000588735.1:c.82+2057C>A	ENSP00000466598.1:n.82+2057C>A
ENST00000588957.5:c.-32C>A	ENSP00000465565.1:n.-32C>A
ENST00000590922.1:n.351C>A
ENST00000592320.5:c.618+380C>A	ENSP00000465320.1:n.618+380C>A
NM_001131019.2:c.701C>A	NP_001124491.1:p.Ala234Asp
NM_001242376.1:c.701C>A	NP_001229305.1:p.Ala234Asp
NM_002055.4:c.701C>A	NP_002046.1:p.Ala234Asp
NM_001363846.1:c.701C>A	NP_001350775.1:p.Ala234Asp
XM_024450690.1:c.905C>A	XP_024306458.1:p.Ala302Asp
XM_024450691.1:c.905C>A	XP_024306459.1:p.Ala302Asp
XM_024450692.1:c.905C>A	XP_024306460.1:p.Ala302Asp
XM_024450693.1:c.905C>A	XP_024306461.1:p.Ala302Asp
NM_002055.5:c.701C>A MANE Select	NP_002046.1:p.Ala234Asp
NM_001131019.3:c.701C>A	NP_001124491.1:p.Ala234Asp
NM_001242376.2:c.701C>A	NP_001229305.1:p.Ala234Asp
NM_001242376.3:c.701C>A	NP_001229305.1:p.Ala234Asp
NM_001363846.2:c.701C>A	NP_001350775.1:p.Ala234Asp