Canonical Allele Identifier: CA2687989266
Gene: CFAP418 HGNC NCBI

Linked Data

gnomAD v4: 8-95260439-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95260439T>C , CM000670.2:g.95260439T>C GRCh38
NC_000008.10:g.96272667T>C , CM000670.1:g.96272667T>C GRCh37
NC_000008.9:g.96341843T>C NCBI36
NG_032804.1:g.13796A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000286688.6:c.308+29A>G MANE Select ENSP00000286688.5:n.308+29A>G
ENST00000286688.5:c.308+29A>G ENSP00000286688.5:n.308+29A>G
NM_177965.3:c.308+29A>G NP_808880.1:n.308+29A>G
XM_005250799.2:c.647+29A>G XP_005250856.2:n.647+29A>G
NM_001363260.1:c.308+29A>G NP_001350189.1:n.308+29A>G
NM_177965.4:c.308+29A>G MANE Select NP_808880.1:n.308+29A>G
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