Canonical Allele Identifier: CA7575066

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• ClinVar Variation Id: 2620288
• ClinVar RCV Id: RCV003379536
• dbSNP Id: rs769685504
• ExAC: 15:55783358 C / T
• gnomAD v2: 15-55783358-C-T
• gnomAD v3: 15-55491160-C-T
• gnomAD v4: 15-55491160-C-T
• COSMIC: COSM4055765 ; COSM4055766
• MyVariant Identifiers: chr15:g.55783358C>T (hg19) ; chr15:g.55491160C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55491160C>T , CM000677.2:g.55491160C>T	GRCh38
NC_000015.9:g.55783358C>T , CM000677.1:g.55783358C>T	GRCh37
NC_000015.8:g.53570650C>T	NCBI36
NG_021213.1:g.22075G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321149.7:c.368G>A (DNAAF4) MANE Select	ENSP00000323275.3:p.Arg123Gln
ENST00000348518.4:c.368G>A (DNAAF4)	ENSP00000299561.5:p.Arg123Gln
ENST00000448430.6:c.368G>A (DNAAF4)	ENSP00000403412.2:p.Arg123Gln
ENST00000457155.6:c.368G>A (DNAAF4)	ENSP00000402640.2:p.Arg123Gln
ENST00000519017.1:n.383G>A (DNAAF4)
ENST00000522437.1:c.*178G>A (DNAAF4)	ENSP00000429219.1:n.*178G>A
ENST00000524160.5:c.368G>A (DNAAF4)	ENSP00000428097.1:p.Arg123Gln
NM_001033559.2:c.368G>A (DNAAF4)	NP_001028731.1:p.Arg123Gln
NM_001033560.1:c.368G>A (DNAAF4)	NP_001028732.1:p.Arg123Gln
NM_130810.3:c.368G>A (DNAAF4)	NP_570722.2:p.Arg123Gln
NR_037923.1:n.623G>A (DNAAF4-CCPG1)
NM_130810.4:c.368G>A (DNAAF4) MANE Select	NP_570722.2:p.Arg123Gln
NM_001033559.3:c.368G>A (DNAAF4)	NP_001028731.1:p.Arg123Gln
NM_001033560.2:c.368G>A (DNAAF4)	NP_001028732.1:p.Arg123Gln