Canonical Allele Identifier: CA392551403

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• ClinVar Variation Id: 2532165
• ClinVar RCV Id: RCV003280950
• gnomAD v4: 15-55491140-G-T
• MyVariant Identifiers: chr15:g.55783338G>T (hg19) ; chr15:g.55491140G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55491140G>T , CM000677.2:g.55491140G>T	GRCh38
NC_000015.9:g.55783338G>T , CM000677.1:g.55783338G>T	GRCh37
NC_000015.8:g.53570630G>T	NCBI36
NG_021213.1:g.22095C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321149.7:c.388C>A (DNAAF4) MANE Select	ENSP00000323275.3:p.Leu130Ile
ENST00000348518.4:c.388C>A (DNAAF4)	ENSP00000299561.5:p.Leu130Ile
ENST00000448430.6:c.388C>A (DNAAF4)	ENSP00000403412.2:p.Leu130Ile
ENST00000457155.6:c.388C>A (DNAAF4)	ENSP00000402640.2:p.Leu130Ile
ENST00000519017.1:n.403C>A (DNAAF4)
ENST00000522437.1:c.*198C>A (DNAAF4)	ENSP00000429219.1:n.*198C>A
ENST00000524160.5:c.388C>A (DNAAF4)	ENSP00000428097.1:p.Leu130Ile
NM_001033559.2:c.388C>A (DNAAF4)	NP_001028731.1:p.Leu130Ile
NM_001033560.1:c.388C>A (DNAAF4)	NP_001028732.1:p.Leu130Ile
NM_130810.3:c.388C>A (DNAAF4)	NP_570722.2:p.Leu130Ile
NR_037923.1:n.643C>A (DNAAF4-CCPG1)
NM_130810.4:c.388C>A (DNAAF4) MANE Select	NP_570722.2:p.Leu130Ile
NM_001033559.3:c.388C>A (DNAAF4)	NP_001028731.1:p.Leu130Ile
NM_001033560.2:c.388C>A (DNAAF4)	NP_001028732.1:p.Leu130Ile