Canonical Allele Identifier: CA1191085
Gene: CFAP45 HGNC NCBI

Linked Data

dbSNP Id: rs759877988
ExAC: 1:159856426 C / G
gnomAD v2: 1-159856426-C-G
gnomAD v4: 1-159886636-C-G
MyVariant Identifiers: chr1:g.159856426C>G (hg19) chr1:g.159886636C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886636C>G , CM000663.2:g.159886636C>G GRCh38
NC_000001.10:g.159856426C>G , CM000663.1:g.159856426C>G GRCh37
NC_000001.9:g.158123050C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.642G>C MANE Select ENSP00000357079.4:p.Lys214Asn
ENST00000368099.8:c.642G>C ENSP00000357079.4:p.Lys214Asn
ENST00000426543.6:c.387G>C ENSP00000403044.2:p.Lys129Asn
ENST00000476696.5:c.642G>C ENSP00000483972.1:p.Lys214Asn
ENST00000479940.2:c.387G>C ENSP00000478944.1:p.Lys129Asn
NM_012337.2:c.642G>C NP_036469.2:p.Lys214Asn
NM_012337.3:c.642G>C MANE Select NP_036469.2:p.Lys214Asn
Search 100 bp 5'
Search 100 bp 3'