Canonical Allele Identifier: CA8609143

Gene: GFAP

Linked Data

• dbSNP Id: rs762416104
• ExAC: 17:42992873 G / A
• gnomAD v2: 17-42992873-G-A
• gnomAD v4: 17-44915505-G-A
• MyVariant Identifiers: chr17:g.42992873G>A (hg19) ; chr17:g.44915505G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44915505G>A , CM000679.2:g.44915505G>A	GRCh38
NC_000017.10:g.42992873G>A , CM000679.1:g.42992873G>A	GRCh37
NC_000017.9:g.40348399G>A	NCBI36
NG_008401.1:g.5042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253408.9:c.-19C>T	ENSP00000253408.4:n.-19C>T
ENST00000588957.5:c.-272+312C>T	ENSP00000465565.1:n.-272+312C>T
ENST00000593179.1:c.-19C>T	ENSP00000467106.1:n.-19C>T
NM_001131019.2:c.-19C>T	NP_001124491.1:n.-19C>T
NM_001242376.1:c.-19C>T	NP_001229305.1:n.-19C>T
NM_002055.4:c.-19C>T	NP_002046.1:n.-19C>T
NM_001363846.1:c.-19C>T	NP_001350775.1:n.-19C>T
XM_024450690.1:c.-19C>T	XP_024306458.1:n.-19C>T
XM_024450691.1:c.-19C>T	XP_024306459.1:n.-19C>T
XM_024450692.1:c.-19C>T	XP_024306460.1:n.-19C>T
XM_024450693.1:c.-19C>T	XP_024306461.1:n.-19C>T