Canonical Allele Identifier: CA16043529

Gene: GFAP

Linked Data

• ClinVar Variation Id: 374003
• ClinVar RCV Id: RCV000415341
• dbSNP Id: rs1057518828
• MyVariant Identifiers: chr17:g.42988685T>G (hg19) ; chr17:g.44911317T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44911317T>G , CM000679.2:g.44911317T>G	GRCh38
NC_000017.10:g.42988685T>G , CM000679.1:g.42988685T>G	GRCh37
NC_000017.9:g.40344211T>G	NCBI36
NG_008401.1:g.9230A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253408.11:c.1046A>C	ENSP00000253408.5:p.Tyr349Ser
ENST00000435360.8:c.1046A>C	ENSP00000403962.1:p.Tyr349Ser
ENST00000253408.10:c.1046A>C	ENSP00000253408.5:p.Tyr349Ser
ENST00000435360.7:c.1046A>C	ENSP00000403962.1:p.Tyr349Ser
ENST00000585543.6:n.199A>C
ENST00000586127.6:n.1575A>C
ENST00000586793.6:c.911A>C	ENSP00000468500.2:p.Tyr304Ser
ENST00000587997.6:n.522A>C
ENST00000588735.3:c.1046A>C MANE Select	ENSP00000466598.2:p.Tyr349Ser
ENST00000591327.2:n.2200A>C
ENST00000592320.6:c.623A>C	ENSP00000465320.1:p.Tyr208Ser
ENST00000638281.1:c.1046A>C	ENSP00000491088.1:p.Tyr349Ser
ENST00000638618.1:c.701A>C	ENSP00000492832.1:p.Tyr234Ser
ENST00000639277.1:c.1046A>C	ENSP00000492432.1:p.Tyr349Ser
ENST00000639921.1:c.3A>C
ENST00000640552.1:n.1060A>C
ENST00000253408.9:c.1046A>C	ENSP00000253408.4:p.Tyr349Ser
ENST00000376990.8:c.*445A>C	ENSP00000366189.4:n.*445A>C
ENST00000435360.6:c.1046A>C	ENSP00000403962.1:p.Tyr349Ser
ENST00000585543.5:n.199A>C
ENST00000586793.5:c.1046A>C	ENSP00000468500.1:p.Tyr349Ser
ENST00000587997.5:c.522A>C
ENST00000588640.5:n.426A>C
ENST00000588735.1:c.83-3201A>C	ENSP00000466598.1:n.83-3201A>C
ENST00000592320.5:c.623A>C	ENSP00000465320.1:p.Tyr208Ser
NM_001131019.2:c.1046A>C	NP_001124491.1:p.Tyr349Ser
NM_001242376.1:c.1046A>C	NP_001229305.1:p.Tyr349Ser
NM_002055.4:c.1046A>C	NP_002046.1:p.Tyr349Ser
NM_001363846.1:c.1046A>C	NP_001350775.1:p.Tyr349Ser
XM_024450690.1:c.1250A>C	XP_024306458.1:p.Tyr417Ser
XM_024450691.1:c.1250A>C	XP_024306459.1:p.Tyr417Ser
XM_024450692.1:c.1250A>C	XP_024306460.1:p.Tyr417Ser
XM_024450693.1:c.1250A>C	XP_024306461.1:p.Tyr417Ser
NM_002055.5:c.1046A>C MANE Select	NP_002046.1:p.Tyr349Ser
NM_001131019.3:c.1046A>C	NP_001124491.1:p.Tyr349Ser
NM_001242376.2:c.1046A>C	NP_001229305.1:p.Tyr349Ser
NM_001242376.3:c.1046A>C	NP_001229305.1:p.Tyr349Ser
NM_001363846.2:c.1046A>C	NP_001350775.1:p.Tyr349Ser