Canonical Allele Identifier: CA15088760
Gene: FAF1 HGNC NCBI
FAF1-AS1 HGNC NCBI
COSMIC:
COSN6459272 (not active)
MyVariant.info:
GRCh38 chr1:g.50472176T>C
GRCh37 chr1:g.50937848T>C
gnomAD v2:
1:50937848 T / C
gnomAD v3:
1:50472176 T / C
gnomAD v4:
chr1-50472176-T-C
Joint Max Group AF 0.75151412 (EAS)
Genomes Max Group AF 0.75151412 (EAS)
dbSNP:
3827730
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.50472176T>C , CM000663.2:g.50472176T>C GRCh38
NC_000001.10:g.50937848T>C , CM000663.1:g.50937848T>C GRCh37
NC_000001.9:g.50710436T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396153.7:c.1869+3288A>G (FAF1) MANE Select ENSP00000379457.2:n.1869+3288A>G
ENST00000371778.5:c.1389+3288A>G (FAF1) ENSP00000360843.5:n.1389+3288A>G
ENST00000396153.6:c.1869+3288A>G (FAF1) ENSP00000379457.2:n.1869+3288A>G
ENST00000494400.5:c.1287+3288A>G (FAF1) ENSP00000434929.1:n.1287+3288A>G
NM_007051.2:c.1869+3288A>G (FAF1) NP_008982.1:n.1869+3288A>G
XR_947329.1:n.2666+920T>C (FAF1-AS1)
XM_017000136.1:c.1542+3288A>G (FAF1) XP_016855625.1:n.1542+3288A>G
XM_024452734.1:c.1845+3288A>G (FAF1) XP_024308502.1:n.1845+3288A>G
XM_024452736.1:c.1542+3288A>G (FAF1) XP_024308504.1:n.1542+3288A>G
NM_007051.3:c.1869+3288A>G (FAF1) MANE Select NP_008982.1:n.1869+3288A>G
Search 100 bp 5'
Search 100 bp 3'