Canonical Allele Identifier: CA7575053

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• ClinVar Variation Id: 853435
• ClinVar RCV Id: RCV001058237
• dbSNP Id: rs747493543
• ExAC: 15:55783324 C / T
• gnomAD v2: 15-55783324-C-T
• gnomAD v3: 15-55491126-C-T
• gnomAD v4: 15-55491126-C-T
• MyVariant Identifiers: chr15:g.55783324C>T (hg19) ; chr15:g.55491126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55491126C>T , CM000677.2:g.55491126C>T	GRCh38
NC_000015.9:g.55783324C>T , CM000677.1:g.55783324C>T	GRCh37
NC_000015.8:g.53570616C>T	NCBI36
NG_021213.1:g.22109G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321149.7:c.402G>A (DNAAF4) MANE Select	ENSP00000323275.3:p.Met134Ile
ENST00000348518.4:c.402G>A (DNAAF4)	ENSP00000299561.5:p.Met134Ile
ENST00000448430.6:c.402G>A (DNAAF4)	ENSP00000403412.2:p.Met134Ile
ENST00000457155.6:c.402G>A (DNAAF4)	ENSP00000402640.2:p.Met134Ile
ENST00000519017.1:n.417G>A (DNAAF4)
ENST00000522437.1:c.*212G>A (DNAAF4)	ENSP00000429219.1:n.*212G>A
ENST00000524160.5:c.402G>A (DNAAF4)	ENSP00000428097.1:p.Met134Ile
NM_001033559.2:c.402G>A (DNAAF4)	NP_001028731.1:p.Met134Ile
NM_001033560.1:c.402G>A (DNAAF4)	NP_001028732.1:p.Met134Ile
NM_130810.3:c.402G>A (DNAAF4)	NP_570722.2:p.Met134Ile
NR_037923.1:n.657G>A (DNAAF4-CCPG1)
NM_130810.4:c.402G>A (DNAAF4) MANE Select	NP_570722.2:p.Met134Ile
NM_001033559.3:c.402G>A (DNAAF4)	NP_001028731.1:p.Met134Ile
NM_001033560.2:c.402G>A (DNAAF4)	NP_001028732.1:p.Met134Ile