Canonical Allele Identifier: CA8609015

Gene: GFAP

Linked Data

• dbSNP Id: rs373464137
• ExAC: 17:42992368 G / C
• gnomAD v2: 17-42992368-G-C
• gnomAD v4: 17-44915000-G-C
• MyVariant Identifiers: chr17:g.42992368G>C (hg19) ; chr17:g.42992368_42992369delinsCC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44915000G>C , CM000679.2:g.44915000G>C	GRCh38
NC_000017.10:g.42992368G>C , CM000679.1:g.42992368G>C	GRCh37
NC_000017.9:g.40347894G>C	NCBI36
NG_008401.1:g.5547C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.461+26C>G	ENSP00000253408.5:n.461+26C>G
ENST00000435360.8:c.461+26C>G	ENSP00000403962.1:n.461+26C>G
ENST00000253408.10:c.461+26C>G	ENSP00000253408.5:n.461+26C>G
ENST00000435360.7:c.461+26C>G	ENSP00000403962.1:n.461+26C>G
ENST00000586127.6:n.79C>G
ENST00000586793.6:c.461+26C>G	ENSP00000468500.2:n.461+26C>G
ENST00000588735.3:c.461+26C>G MANE Select	ENSP00000466598.2:n.461+26C>G
ENST00000591327.2:n.500C>G
ENST00000592320.6:c.461+26C>G	ENSP00000465320.1:n.461+26C>G
ENST00000638281.1:c.461+26C>G	ENSP00000491088.1:n.461+26C>G
ENST00000638618.1:c.116+26C>G	ENSP00000492832.1:n.116+26C>G
ENST00000639277.1:c.461+26C>G	ENSP00000492432.1:n.461+26C>G
ENST00000640552.1:n.475+26C>G
ENST00000253408.9:c.461+26C>G	ENSP00000253408.4:n.461+26C>G
ENST00000376990.8:c.461+26C>G	ENSP00000366189.4:n.461+26C>G
ENST00000435360.6:c.461+26C>G	ENSP00000403962.1:n.461+26C>G
ENST00000585728.5:c.*105+26C>G	ENSP00000465208.1:n.*105+26C>G
ENST00000586793.5:c.461+26C>G	ENSP00000468500.1:n.461+26C>G
ENST00000588037.1:c.461+26C>G	ENSP00000466163.1:n.461+26C>G
ENST00000588316.1:c.461+26C>G	ENSP00000465629.1:n.461+26C>G
ENST00000588735.1:c.82+405C>G	ENSP00000466598.1:n.82+405C>G
ENST00000588957.5:c.-272+817C>G	ENSP00000465565.1:n.-272+817C>G
ENST00000591327.1:n.475+26C>G
ENST00000592320.5:c.461+26C>G	ENSP00000465320.1:n.461+26C>G
NM_001131019.2:c.461+26C>G	NP_001124491.1:n.461+26C>G
NM_001242376.1:c.461+26C>G	NP_001229305.1:n.461+26C>G
NM_002055.4:c.461+26C>G	NP_002046.1:n.461+26C>G
NM_001363846.1:c.461+26C>G	NP_001350775.1:n.461+26C>G
XM_024450690.1:c.461+26C>G	XP_024306458.1:n.461+26C>G
XM_024450691.1:c.461+26C>G	XP_024306459.1:n.461+26C>G
XM_024450692.1:c.461+26C>G	XP_024306460.1:n.461+26C>G
XM_024450693.1:c.461+26C>G	XP_024306461.1:n.461+26C>G
NM_002055.5:c.461+26C>G MANE Select	NP_002046.1:n.461+26C>G
NM_001131019.3:c.461+26C>G	NP_001124491.1:n.461+26C>G
NM_001242376.2:c.461+26C>G	NP_001229305.1:n.461+26C>G
NM_001242376.3:c.461+26C>G	NP_001229305.1:n.461+26C>G
NM_001363846.2:c.461+26C>G	NP_001350775.1:n.461+26C>G