Canonical Allele Identifier: CA31389722
Gene: CFAP45 HGNC NCBI

Linked Data

dbSNP Id: rs995174714
gnomAD v2: 1-159856283-C-T
gnomAD v3: 1-159886493-C-T
gnomAD v4: 1-159886493-C-T
MyVariant Identifiers: chr1:g.159856283C>T (hg19) chr1:g.159886493C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886493C>T , CM000663.2:g.159886493C>T GRCh38
NC_000001.10:g.159856283C>T , CM000663.1:g.159856283C>T GRCh37
NC_000001.9:g.158122907C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.767+18G>A MANE Select ENSP00000357079.4:n.767+18G>A
ENST00000368099.8:c.767+18G>A ENSP00000357079.4:n.767+18G>A
ENST00000426543.6:c.512+18G>A ENSP00000403044.2:n.512+18G>A
ENST00000476696.5:c.767+18G>A ENSP00000483972.1:n.767+18G>A
NM_012337.2:c.767+18G>A NP_036469.2:n.767+18G>A
NM_012337.3:c.767+18G>A MANE Select NP_036469.2:n.767+18G>A
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