Canonical Allele Identifier: CA5321527
Gene: FCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.134909954T>C
GRCh37 chr9:g.137801800T>C
gnomAD v2:
9:137801800 T / C
gnomAD v3:
9:134909954 T / C
gnomAD v4:
chr9-134909954-T-C
Joint Max Group AF 0.90010967 (AFR)
Genomes Max Group AF 0.89083534 (AFR)
Exomes Max Group AF 0.90634667 (AFR)
dbSNP:
1071583
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134909954T>C , CM000671.2:g.134909954T>C GRCh38
NC_000009.11:g.137801800T>C , CM000671.1:g.137801800T>C GRCh37
NC_000009.10:g.136941621T>C NCBI36
NG_046982.2:g.13007A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371806.4:c.825A>G MANE Select ENSP00000360871.3:p.Gln275=
ENST00000371806.3:c.825A>G ENSP00000360871.3:p.Gln275=
ENST00000616356.4:c.543-244A>G ENSP00000479379.1:n.543-244A>G
NM_002003.3:c.825A>G NP_001994.2:p.Gln275=
NM_002003.4:c.825A>G NP_001994.2:p.Gln275=
NM_002003.5:c.825A>G MANE Select NP_001994.2:p.Gln275=
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