Canonical Allele Identifier: CA8608638

Gene: GFAP

Linked Data

• dbSNP Id: rs535421608
• ExAC: 17:42985571 C / T
• gnomAD v2: 17-42985571-C-T
• gnomAD v3: 17-44908203-C-T
• gnomAD v4: 17-44908203-C-T
• MyVariant Identifiers: chr17:g.42985571C>T (hg19) ; chr17:g.44908203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44908203C>T , CM000679.2:g.44908203C>T	GRCh38
NC_000017.10:g.42985571C>T , CM000679.1:g.42985571C>T	GRCh37
NC_000017.9:g.40341097C>T	NCBI36
NG_008401.1:g.12344G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.11:c.1292-54G>A	ENSP00000253408.5:n.1292-54G>A
ENST00000253408.10:c.1292-54G>A	ENSP00000253408.5:n.1292-54G>A
ENST00000441312.2:n.25-54G>A
ENST00000585543.6:n.325-54G>A
ENST00000586125.2:c.107-54G>A	ENSP00000467397.2:n.107-54G>A
ENST00000588735.3:c.1172-54G>A MANE Select	ENSP00000466598.2:n.1172-54G>A
ENST00000589701.2:n.2025G>A
ENST00000591880.2:c.271-54G>A
ENST00000592065.2:n.486G>A
ENST00000638304.1:c.91-54G>A
ENST00000638400.1:c.7-54G>A
ENST00000638488.1:n.636-54G>A
ENST00000638618.1:c.827-54G>A	ENSP00000492832.1:n.827-54G>A
ENST00000638921.1:n.45G>A
ENST00000639042.1:c.144-54G>A
ENST00000639277.1:c.1172-54G>A	ENSP00000492432.1:n.1172-54G>A
ENST00000639369.1:c.22-54G>A
ENST00000253408.9:c.1172-54G>A	ENSP00000253408.4:n.1172-54G>A
ENST00000585543.5:n.325-54G>A
ENST00000586125.1:c.143-54G>A	ENSP00000467397.1:n.143-54G>A
ENST00000588640.5:n.552-54G>A
ENST00000588735.1:c.83-87G>A	ENSP00000466598.1:n.83-87G>A
ENST00000589701.1:n.20G>A
ENST00000591880.1:c.38-54G>A	ENSP00000467530.1:n.38-54G>A
ENST00000592706.5:n.44-54G>A
NM_002055.4:c.1172-54G>A	NP_002046.1:n.1172-54G>A
NM_001363846.1:c.1292-54G>A	NP_001350775.1:n.1292-54G>A
XM_024450690.1:c.1496-54G>A	XP_024306458.1:n.1496-54G>A
XM_024450692.1:c.1376-54G>A	XP_024306460.1:n.1376-54G>A
NM_002055.5:c.1172-54G>A MANE Select	NP_002046.1:n.1172-54G>A
NM_001363846.2:c.1292-54G>A	NP_001350775.1:n.1292-54G>A