Canonical Allele Identifier: CA291030399

Gene: GFAP

Linked Data

• dbSNP Id: rs558226478
• gnomAD v3: 17-44912780-A-G
• gnomAD v4: 17-44912780-A-G
• MyVariant Identifiers: chr17:g.42990148A>G (hg19) ; chr17:g.44912780A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44912780A>G , CM000679.2:g.44912780A>G	GRCh38
NC_000017.10:g.42990148A>G , CM000679.1:g.42990148A>G	GRCh37
NC_000017.9:g.40345674A>G	NCBI36
NG_008401.1:g.7767T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.780+489T>C	ENSP00000253408.5:n.780+489T>C
ENST00000435360.8:c.780+489T>C	ENSP00000403962.1:n.780+489T>C
ENST00000253408.10:c.780+489T>C	ENSP00000253408.5:n.780+489T>C
ENST00000435360.7:c.780+489T>C	ENSP00000403962.1:n.780+489T>C
ENST00000586127.6:n.1309+489T>C
ENST00000586793.6:c.780+489T>C	ENSP00000468500.2:n.780+489T>C
ENST00000587997.6:n.256+489T>C
ENST00000588735.3:c.780+489T>C MANE Select	ENSP00000466598.2:n.780+489T>C
ENST00000591327.2:n.1934+489T>C
ENST00000592320.6:c.618+948T>C	ENSP00000465320.1:n.618+948T>C
ENST00000638281.1:c.780+489T>C	ENSP00000491088.1:n.780+489T>C
ENST00000638618.1:c.435+489T>C	ENSP00000492832.1:n.435+489T>C
ENST00000639277.1:c.780+489T>C	ENSP00000492432.1:n.780+489T>C
ENST00000640552.1:n.794+489T>C
ENST00000253408.9:c.780+489T>C	ENSP00000253408.4:n.780+489T>C
ENST00000376990.8:c.*179+489T>C	ENSP00000366189.4:n.*179+489T>C
ENST00000435360.6:c.780+489T>C	ENSP00000403962.1:n.780+489T>C
ENST00000586793.5:c.780+489T>C	ENSP00000468500.1:n.780+489T>C
ENST00000587997.5:c.256+489T>C
ENST00000588316.1:c.684+489T>C	ENSP00000465629.1:n.684+489T>C
ENST00000588640.5:n.155T>C
ENST00000588735.1:c.82+2625T>C	ENSP00000466598.1:n.82+2625T>C
ENST00000588957.5:c.48+489T>C	ENSP00000465565.1:n.48+489T>C
ENST00000590922.1:n.430+489T>C
ENST00000592320.5:c.618+948T>C	ENSP00000465320.1:n.618+948T>C
NM_001131019.2:c.780+489T>C	NP_001124491.1:n.780+489T>C
NM_001242376.1:c.780+489T>C	NP_001229305.1:n.780+489T>C
NM_002055.4:c.780+489T>C	NP_002046.1:n.780+489T>C
NM_001363846.1:c.780+489T>C	NP_001350775.1:n.780+489T>C
XM_024450690.1:c.984+489T>C	XP_024306458.1:n.984+489T>C
XM_024450691.1:c.984+489T>C	XP_024306459.1:n.984+489T>C
XM_024450692.1:c.984+489T>C	XP_024306460.1:n.984+489T>C
XM_024450693.1:c.984+489T>C	XP_024306461.1:n.984+489T>C
NM_002055.5:c.780+489T>C MANE Select	NP_002046.1:n.780+489T>C
NM_001131019.3:c.780+489T>C	NP_001124491.1:n.780+489T>C
NM_001242376.2:c.780+489T>C	NP_001229305.1:n.780+489T>C
NM_001242376.3:c.780+489T>C	NP_001229305.1:n.780+489T>C
NM_001363846.2:c.780+489T>C	NP_001350775.1:n.780+489T>C