Canonical Allele Identifier: CA7575068

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• dbSNP Id: rs749092579
• ExAC: 15:55783359 G / A
• gnomAD v2: 15-55783359-G-A
• gnomAD v4: 15-55491161-G-A
• MyVariant Identifiers: chr15:g.55783359G>A (hg19) ; chr15:g.55491161G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55491161G>A , CM000677.2:g.55491161G>A	GRCh38
NC_000015.9:g.55783359G>A , CM000677.1:g.55783359G>A	GRCh37
NC_000015.8:g.53570651G>A	NCBI36
NG_021213.1:g.22074C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321149.7:c.367C>T (DNAAF4) MANE Select	ENSP00000323275.3:p.Arg123Trp
ENST00000348518.4:c.367C>T (DNAAF4)	ENSP00000299561.5:p.Arg123Trp
ENST00000448430.6:c.367C>T (DNAAF4)	ENSP00000403412.2:p.Arg123Trp
ENST00000457155.6:c.367C>T (DNAAF4)	ENSP00000402640.2:p.Arg123Trp
ENST00000519017.1:n.382C>T (DNAAF4)
ENST00000522437.1:c.*177C>T (DNAAF4)	ENSP00000429219.1:n.*177C>T
ENST00000524160.5:c.367C>T (DNAAF4)	ENSP00000428097.1:p.Arg123Trp
NM_001033559.2:c.367C>T (DNAAF4)	NP_001028731.1:p.Arg123Trp
NM_001033560.1:c.367C>T (DNAAF4)	NP_001028732.1:p.Arg123Trp
NM_130810.3:c.367C>T (DNAAF4)	NP_570722.2:p.Arg123Trp
NR_037923.1:n.622C>T (DNAAF4-CCPG1)
NM_130810.4:c.367C>T (DNAAF4) MANE Select	NP_570722.2:p.Arg123Trp
NM_001033559.3:c.367C>T (DNAAF4)	NP_001028731.1:p.Arg123Trp
NM_001033560.2:c.367C>T (DNAAF4)	NP_001028732.1:p.Arg123Trp