Canonical Allele Identifier: CA2628589021

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• gnomAD v4: 15-55491118-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55491118C>T , CM000677.2:g.55491118C>T	GRCh38
NC_000015.9:g.55783316C>T , CM000677.1:g.55783316C>T	GRCh37
NC_000015.8:g.53570608C>T	NCBI36
NG_021213.1:g.22117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321149.7:c.405+5G>A (DNAAF4) MANE Select	ENSP00000323275.3:n.405+5G>A
ENST00000348518.4:c.405+5G>A (DNAAF4)	ENSP00000299561.5:n.405+5G>A
ENST00000448430.6:c.405+5G>A (DNAAF4)	ENSP00000403412.2:n.405+5G>A
ENST00000457155.6:c.405+5G>A (DNAAF4)	ENSP00000402640.2:n.405+5G>A
ENST00000519017.1:n.425G>A (DNAAF4)
ENST00000522437.1:c.*215+5G>A (DNAAF4)	ENSP00000429219.1:n.*215+5G>A
ENST00000524160.5:c.405+5G>A (DNAAF4)	ENSP00000428097.1:n.405+5G>A
NM_001033559.2:c.405+5G>A (DNAAF4)	NP_001028731.1:n.405+5G>A
NM_001033560.1:c.405+5G>A (DNAAF4)	NP_001028732.1:n.405+5G>A
NM_130810.3:c.405+5G>A (DNAAF4)	NP_570722.2:n.405+5G>A
NR_037923.1:n.660+5G>A (DNAAF4-CCPG1)
NM_130810.4:c.405+5G>A (DNAAF4) MANE Select	NP_570722.2:n.405+5G>A
NM_001033559.3:c.405+5G>A (DNAAF4)	NP_001028731.1:n.405+5G>A
NM_001033560.2:c.405+5G>A (DNAAF4)	NP_001028732.1:n.405+5G>A