Canonical Allele Identifier: CA8637451
Gene: ABI3 HGNC NCBI
COSMIC:
COSM4130358 (not active)
MyVariant.info:
GRCh38 chr17:g.49219935T>C
GRCh37 chr17:g.47297297T>C
Revel Score:
ENST00000225941 (MANE Select) 0.024
ENST00000419580 0.024
gnomAD v2:
17:47297297 T / C
gnomAD v3:
17:49219935 T / C
gnomAD v4:
chr17-49219935-T-C
Joint Max Group AF 0.99429919 (SAS)
Genomes Max Group AF 0.99017473 (AFR)
Exomes Max Group AF 0.99412808 (SAS)
dbSNP:
616338
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49219935T>C , CM000679.2:g.49219935T>C GRCh38
NC_000017.10:g.47297297T>C , CM000679.1:g.47297297T>C GRCh37
NC_000017.9:g.44652296T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000225941.6:c.626T>C MANE Select ENSP00000225941.1:p.Phe209Ser
ENST00000225941.5:c.626T>C ENSP00000225941.1:p.Phe209Ser
ENST00000419580.6:c.608T>C ENSP00000406651.2:p.Phe203Ser
ENST00000571035.1:c.78T>C
ENST00000573347.5:c.141T>C
XM_005257429.2:c.626T>C XP_005257486.1:p.Phe209Ser
XM_011524873.1:c.626T>C XP_011523175.1:p.Phe209Ser
XM_017024721.1:c.626T>C XP_016880210.1:p.Phe209Ser
NM_016428.3:c.626T>C MANE Select NP_057512.2:p.Phe209Ser
NM_001135186.2:c.608T>C NP_001128658.2:p.Phe203Ser
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