Canonical Allele Identifier: CA8608662

Gene: GFAP

Linked Data

• dbSNP Id: rs769557517
• ExAC: 17:42985630 T / C
• gnomAD v2: 17-42985630-T-C
• MyVariant Identifiers: chr17:g.42985630T>C (hg19) ; chr17:g.44908262T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908262T>C , CM000679.2:g.44908262T>C	GRCh38
NC_000017.10:g.42985630T>C , CM000679.1:g.42985630T>C	GRCh37
NC_000017.9:g.40341156T>C	NCBI36
NG_008401.1:g.12285A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1292-113A>G	ENSP00000253408.5:n.1292-113A>G
ENST00000253408.10:c.1292-113A>G	ENSP00000253408.5:n.1292-113A>G
ENST00000441312.2:n.25-113A>G
ENST00000585543.6:n.325-113A>G
ENST00000586125.2:c.107-113A>G	ENSP00000467397.2:n.107-113A>G
ENST00000588735.3:c.1172-113A>G MANE Select	ENSP00000466598.2:n.1172-113A>G
ENST00000589701.2:n.1966A>G
ENST00000591880.2:c.271-113A>G
ENST00000592065.2:n.427A>G
ENST00000638304.1:c.91-113A>G
ENST00000638400.1:c.7-113A>G
ENST00000638488.1:n.636-113A>G
ENST00000638618.1:c.827-113A>G	ENSP00000492832.1:n.827-113A>G
ENST00000639042.1:c.144-113A>G
ENST00000639277.1:c.1172-113A>G	ENSP00000492432.1:n.1172-113A>G
ENST00000639369.1:c.22-113A>G
ENST00000640552.1:n.3538A>G
ENST00000253408.9:c.1172-113A>G	ENSP00000253408.4:n.1172-113A>G
ENST00000585543.5:n.325-113A>G
ENST00000586125.1:c.143-113A>G	ENSP00000467397.1:n.143-113A>G
ENST00000588640.5:n.552-113A>G
ENST00000588735.1:c.83-146A>G	ENSP00000466598.1:n.83-146A>G
ENST00000591880.1:c.38-113A>G	ENSP00000467530.1:n.38-113A>G
ENST00000592706.5:n.44-113A>G
NM_002055.4:c.1172-113A>G	NP_002046.1:n.1172-113A>G
NM_001363846.1:c.1292-113A>G	NP_001350775.1:n.1292-113A>G
XM_024450690.1:c.1496-113A>G	XP_024306458.1:n.1496-113A>G
XM_024450692.1:c.1376-113A>G	XP_024306460.1:n.1376-113A>G
NM_002055.5:c.1172-113A>G MANE Select	NP_002046.1:n.1172-113A>G
NM_001242376.2:c.*2207A>G	NP_001229305.1:n.*2207A>G
NM_001363846.2:c.1292-113A>G	NP_001350775.1:n.1292-113A>G