Canonical Allele Identifier: CA10398821
Gene: CFP HGNC NCBI

Linked Data

ClinVar Variation Id: 402535
dbSNP Id: rs1048118
gnomAD v2: X-47483800-G-A
gnomAD v3: X-47624401-G-A
gnomAD v4: X-47624401-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47624401G>A , CM000685.2:g.47624401G>A GRCh38
NC_000023.10:g.47483800G>A , CM000685.1:g.47483800G>A GRCh37
NC_000023.9:g.47368744G>A NCBI36
NG_008437.1:g.457C>T
NG_009893.1:g.10905C>T , LRG_129:g.10905C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000396992.8:c.1284C>T MANE Select ENSP00000380189.3:p.Asn428=
ENST00000640573.1:n.1522C>T
ENST00000247153.7:c.1284C>T ENSP00000247153.3:p.Asn428=
ENST00000396992.7:c.1284C>T ENSP00000380189.3:p.Asn428=
ENST00000478222.1:n.405C>T
NM_001145252.1:c.1284C>T NP_001138724.1:p.Asn428=
NM_002621.2:c.1284C>T , LRG_129t1:c.1284C>T NP_002612.1:p.Asn428=
XM_017029575.1:c.879C>T XP_016885064.1:p.Asn293=
NM_001145252.3:c.1284C>T MANE Select NP_001138724.1:p.Asn428=