Canonical Allele Identifier: CA3698428
Gene: ABCF1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.30580433A>G
GRCh37 chr6:g.30548210A>G
Revel Score:
ENST00000326195 (MANE Select) 0.059
ENST00000376545 0.059
ENST00000455943 0.059
ENST00000441867 0.059
ENST00000468958 0.059
gnomAD v2:
6:30548210 A / G
gnomAD v3:
6:30580433 A / G
gnomAD v4:
chr6-30580433-A-G
Joint Max Group AF 0.0273584 (AFR)
Genomes Max Group AF 0.02980814 (AFR)
Exomes Max Group AF 0.02299205 (MID)
dbSNP:
6902544
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30580433A>G , CM000668.2:g.30580433A>G GRCh38
NC_000006.11:g.30548210A>G , CM000668.1:g.30548210A>G GRCh37
NC_000006.10:g.30656189A>G NCBI36
NG_047030.1:g.14041A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326195.13:c.592A>G MANE Select ENSP00000313603.8:p.Asn198Asp
ENST00000441867.6:c.595A>G ENSP00000405512.2:p.Asn199Asp
ENST00000326195.12:c.592A>G ENSP00000313603.8:p.Asn198Asp
ENST00000376545.7:c.592A>G ENSP00000365728.3:p.Asn198Asp
ENST00000441867.5:c.595A>G ENSP00000405512.1:p.Asn199Asp
ENST00000468958.1:c.301A>G ENSP00000440893.1:p.Asn101Asp
NM_001025091.1:c.592A>G NP_001020262.1:p.Asn198Asp
NM_001090.2:c.592A>G NP_001081.1:p.Asn198Asp
NM_001025091.2:c.592A>G MANE Select NP_001020262.1:p.Asn198Asp
NM_001090.3:c.592A>G NP_001081.1:p.Asn198Asp
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