Canonical Allele Identifier: CA1116814766
Gene: CFAP418 HGNC NCBI

Linked Data

dbSNP Id: rs1811867789
gnomAD v3: 8-95260451-A-G
gnomAD v4: 8-95260451-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95260451A>G , CM000670.2:g.95260451A>G GRCh38
NC_000008.10:g.96272679A>G , CM000670.1:g.96272679A>G GRCh37
NC_000008.9:g.96341855A>G NCBI36
NG_032804.1:g.13784T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286688.6:c.308+17T>C MANE Select ENSP00000286688.5:n.308+17T>C
ENST00000286688.5:c.308+17T>C ENSP00000286688.5:n.308+17T>C
NM_177965.3:c.308+17T>C NP_808880.1:n.308+17T>C
XM_005250799.2:c.647+17T>C XP_005250856.2:n.647+17T>C
NM_001363260.1:c.308+17T>C NP_001350189.1:n.308+17T>C
NM_177965.4:c.308+17T>C MANE Select NP_808880.1:n.308+17T>C
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