Canonical Allele Identifier: CA343219984
Gene: CFAP45 HGNC NCBI

Linked Data

dbSNP Id: rs1363703228
gnomAD v2: 1-159856437-T-G
gnomAD v4: 1-159886647-T-G
MyVariant Identifiers: chr1:g.159856437T>G (hg19) chr1:g.159886647T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886647T>G , CM000663.2:g.159886647T>G GRCh38
NC_000001.10:g.159856437T>G , CM000663.1:g.159856437T>G GRCh37
NC_000001.9:g.158123061T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.631A>C MANE Select ENSP00000357079.4:p.Ile211Leu
ENST00000368099.8:c.631A>C ENSP00000357079.4:p.Ile211Leu
ENST00000426543.6:c.376A>C ENSP00000403044.2:p.Ile126Leu
ENST00000476696.5:c.631A>C ENSP00000483972.1:p.Ile211Leu
ENST00000479940.2:c.376A>C ENSP00000478944.1:p.Ile126Leu
NM_012337.2:c.631A>C NP_036469.2:p.Ile211Leu
NM_012337.3:c.631A>C MANE Select NP_036469.2:p.Ile211Leu
Search 100 bp 5'
Search 100 bp 3'