Canonical Allele Identifier: CA1191059
Gene: CFAP45 HGNC NCBI

Linked Data

dbSNP Id: rs769101923
ExAC: 1:159856332 G / C
gnomAD v2: 1-159856332-G-C
gnomAD v4: 1-159886542-G-C
MyVariant Identifiers: chr1:g.159856332G>C (hg19) chr1:g.159886542G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886542G>C , CM000663.2:g.159886542G>C GRCh38
NC_000001.10:g.159856332G>C , CM000663.1:g.159856332G>C GRCh37
NC_000001.9:g.158122956G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.736C>G MANE Select ENSP00000357079.4:p.Leu246Val
ENST00000368099.8:c.736C>G ENSP00000357079.4:p.Leu246Val
ENST00000426543.6:c.481C>G ENSP00000403044.2:p.Leu161Val
ENST00000476696.5:c.736C>G ENSP00000483972.1:p.Leu246Val
NM_012337.2:c.736C>G NP_036469.2:p.Leu246Val
NM_012337.3:c.736C>G MANE Select NP_036469.2:p.Leu246Val
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