Canonical Allele Identifier: CA8608646

Gene: GFAP

Linked Data

• dbSNP Id: rs752453941
• ExAC: 17:42985593 A / G
• gnomAD v2: 17-42985593-A-G
• gnomAD v4: 17-44908225-A-G
• MyVariant Identifiers: chr17:g.42985593A>G (hg19) ; chr17:g.44908225A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908225A>G , CM000679.2:g.44908225A>G	GRCh38
NC_000017.10:g.42985593A>G , CM000679.1:g.42985593A>G	GRCh37
NC_000017.9:g.40341119A>G	NCBI36
NG_008401.1:g.12322T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1292-76T>C	ENSP00000253408.5:n.1292-76T>C
ENST00000253408.10:c.1292-76T>C	ENSP00000253408.5:n.1292-76T>C
ENST00000441312.2:n.25-76T>C
ENST00000585543.6:n.325-76T>C
ENST00000586125.2:c.107-76T>C	ENSP00000467397.2:n.107-76T>C
ENST00000588735.3:c.1172-76T>C MANE Select	ENSP00000466598.2:n.1172-76T>C
ENST00000589701.2:n.2003T>C
ENST00000591880.2:c.271-76T>C
ENST00000592065.2:n.464T>C
ENST00000638304.1:c.91-76T>C
ENST00000638400.1:c.7-76T>C
ENST00000638488.1:n.636-76T>C
ENST00000638618.1:c.827-76T>C	ENSP00000492832.1:n.827-76T>C
ENST00000638921.1:n.23T>C
ENST00000639042.1:c.144-76T>C
ENST00000639277.1:c.1172-76T>C	ENSP00000492432.1:n.1172-76T>C
ENST00000639369.1:c.22-76T>C
ENST00000253408.9:c.1172-76T>C	ENSP00000253408.4:n.1172-76T>C
ENST00000585543.5:n.325-76T>C
ENST00000586125.1:c.143-76T>C	ENSP00000467397.1:n.143-76T>C
ENST00000588640.5:n.552-76T>C
ENST00000588735.1:c.83-109T>C	ENSP00000466598.1:n.83-109T>C
ENST00000591880.1:c.38-76T>C	ENSP00000467530.1:n.38-76T>C
ENST00000592706.5:n.44-76T>C
NM_002055.4:c.1172-76T>C	NP_002046.1:n.1172-76T>C
NM_001363846.1:c.1292-76T>C	NP_001350775.1:n.1292-76T>C
XM_024450690.1:c.1496-76T>C	XP_024306458.1:n.1496-76T>C
XM_024450692.1:c.1376-76T>C	XP_024306460.1:n.1376-76T>C
NM_002055.5:c.1172-76T>C MANE Select	NP_002046.1:n.1172-76T>C
NM_001363846.2:c.1292-76T>C	NP_001350775.1:n.1292-76T>C