Canonical Allele Identifier: CA399845694

Gene: GFAP

Linked Data

• dbSNP Id: rs1456844578
• gnomAD v2: 17-42990694-C-G
• gnomAD v3: 17-44913326-C-G
• gnomAD v4: 17-44913326-C-G
• MyVariant Identifiers: chr17:g.42990694C>G (hg19) ; chr17:g.44913326C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44913326C>G , CM000679.2:g.44913326C>G	GRCh38
NC_000017.10:g.42990694C>G , CM000679.1:g.42990694C>G	GRCh37
NC_000017.9:g.40346220C>G	NCBI36
NG_008401.1:g.7221G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.723G>C	ENSP00000253408.5:p.Gln241His
ENST00000435360.8:c.723G>C	ENSP00000403962.1:p.Gln241His
ENST00000253408.10:c.723G>C	ENSP00000253408.5:p.Gln241His
ENST00000435360.7:c.723G>C	ENSP00000403962.1:p.Gln241His
ENST00000586127.6:n.1252G>C
ENST00000586793.6:c.723G>C	ENSP00000468500.2:p.Gln241His
ENST00000587997.6:n.199G>C
ENST00000588735.3:c.723G>C MANE Select	ENSP00000466598.2:p.Gln241His
ENST00000591327.2:n.1877G>C
ENST00000592320.6:c.618+402G>C	ENSP00000465320.1:n.618+402G>C
ENST00000638281.1:c.723G>C	ENSP00000491088.1:p.Gln241His
ENST00000638618.1:c.378G>C	ENSP00000492832.1:p.Gln126His
ENST00000639277.1:c.723G>C	ENSP00000492432.1:p.Gln241His
ENST00000640552.1:n.737G>C
ENST00000253408.9:c.723G>C	ENSP00000253408.4:p.Gln241His
ENST00000376990.8:c.*122G>C	ENSP00000366189.4:n.*122G>C
ENST00000435360.6:c.723G>C	ENSP00000403962.1:p.Gln241His
ENST00000585728.5:c.*367G>C	ENSP00000465208.1:n.*367G>C
ENST00000586793.5:c.723G>C	ENSP00000468500.1:p.Gln241His
ENST00000587997.5:c.199G>C
ENST00000588316.1:c.627G>C	ENSP00000465629.1:p.Gln209His
ENST00000588735.1:c.82+2079G>C	ENSP00000466598.1:n.82+2079G>C
ENST00000588957.5:c.-10G>C	ENSP00000465565.1:n.-10G>C
ENST00000590922.1:n.373G>C
ENST00000592320.5:c.618+402G>C	ENSP00000465320.1:n.618+402G>C
NM_001131019.2:c.723G>C	NP_001124491.1:p.Gln241His
NM_001242376.1:c.723G>C	NP_001229305.1:p.Gln241His
NM_002055.4:c.723G>C	NP_002046.1:p.Gln241His
NM_001363846.1:c.723G>C	NP_001350775.1:p.Gln241His
XM_024450690.1:c.927G>C	XP_024306458.1:p.Gln309His
XM_024450691.1:c.927G>C	XP_024306459.1:p.Gln309His
XM_024450692.1:c.927G>C	XP_024306460.1:p.Gln309His
XM_024450693.1:c.927G>C	XP_024306461.1:p.Gln309His
NM_002055.5:c.723G>C MANE Select	NP_002046.1:p.Gln241His
NM_001131019.3:c.723G>C	NP_001124491.1:p.Gln241His
NM_001242376.2:c.723G>C	NP_001229305.1:p.Gln241His
NM_001242376.3:c.723G>C	NP_001229305.1:p.Gln241His
NM_001363846.2:c.723G>C	NP_001350775.1:p.Gln241His