Canonical Allele Identifier: CA1191063
Gene: CFAP45 HGNC NCBI

Linked Data

dbSNP Id: rs556841676
ExAC: 1:159856341 G / A
gnomAD v2: 1-159856341-G-A
gnomAD v3: 1-159886551-G-A
gnomAD v4: 1-159886551-G-A
MyVariant Identifiers: chr1:g.159856341G>A (hg19) chr1:g.159886551G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159886551G>A , CM000663.2:g.159886551G>A GRCh38
NC_000001.10:g.159856341G>A , CM000663.1:g.159856341G>A GRCh37
NC_000001.9:g.158122965G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368099.9:c.727C>T MANE Select ENSP00000357079.4:p.Gln243Ter
ENST00000368099.8:c.727C>T ENSP00000357079.4:p.Gln243Ter
ENST00000426543.6:c.472C>T ENSP00000403044.2:p.Gln158Ter
ENST00000476696.5:c.727C>T ENSP00000483972.1:p.Gln243Ter
NM_012337.2:c.727C>T NP_036469.2:p.Gln243Ter
NM_012337.3:c.727C>T MANE Select NP_036469.2:p.Gln243Ter
Search 100 bp 5'
Search 100 bp 3'