Canonical Allele Identifier: CA7575125

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• dbSNP Id: rs756850844
• ExAC: 15:55790054 T / C
• gnomAD v2: 15-55790054-T-C
• gnomAD v4: 15-55497856-T-C
• MyVariant Identifiers: chr15:g.55790054T>C (hg19) ; chr15:g.55497856T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55497856T>C , CM000677.2:g.55497856T>C	GRCh38
NC_000015.9:g.55790054T>C , CM000677.1:g.55790054T>C	GRCh37
NC_000015.8:g.53577346T>C	NCBI36
NG_021213.1:g.15379A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321149.7:c.127A>G (DNAAF4) MANE Select	ENSP00000323275.3:p.Asn43Asp
ENST00000348518.4:c.127A>G (DNAAF4)	ENSP00000299561.5:p.Asn43Asp
ENST00000448430.6:c.127A>G (DNAAF4)	ENSP00000403412.2:p.Asn43Asp
ENST00000457155.6:c.127A>G (DNAAF4)	ENSP00000402640.2:p.Asn43Asp
ENST00000519017.1:n.142A>G (DNAAF4)
ENST00000522437.1:c.124-46A>G (DNAAF4)	ENSP00000429219.1:n.124-46A>G
ENST00000524160.5:c.127A>G (DNAAF4)	ENSP00000428097.1:p.Asn43Asp
NM_001033559.2:c.127A>G (DNAAF4)	NP_001028731.1:p.Asn43Asp
NM_001033560.1:c.127A>G (DNAAF4)	NP_001028732.1:p.Asn43Asp
NM_130810.3:c.127A>G (DNAAF4)	NP_570722.2:p.Asn43Asp
NR_037923.1:n.382A>G (DNAAF4-CCPG1)
NM_130810.4:c.127A>G (DNAAF4) MANE Select	NP_570722.2:p.Asn43Asp
NM_001033559.3:c.127A>G (DNAAF4)	NP_001028731.1:p.Asn43Asp
NM_001033560.2:c.127A>G (DNAAF4)	NP_001028732.1:p.Asn43Asp