Canonical Allele Identifier: CA392551393

Gene: DNAAF4 DNAAF4-CCPG1

Linked Data

• dbSNP Id: rs2058565934
• gnomAD v4: 15-55491135-A-C
• MyVariant Identifiers: chr15:g.55783333A>C (hg19) ; chr15:g.55491135A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.55491135A>C , CM000677.2:g.55491135A>C	GRCh38
NC_000015.9:g.55783333A>C , CM000677.1:g.55783333A>C	GRCh37
NC_000015.8:g.53570625A>C	NCBI36
NG_021213.1:g.22100T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321149.7:c.393T>G (DNAAF4) MANE Select	ENSP00000323275.3:p.Ser131Arg
ENST00000348518.4:c.393T>G (DNAAF4)	ENSP00000299561.5:p.Ser131Arg
ENST00000448430.6:c.393T>G (DNAAF4)	ENSP00000403412.2:p.Ser131Arg
ENST00000457155.6:c.393T>G (DNAAF4)	ENSP00000402640.2:p.Ser131Arg
ENST00000519017.1:n.408T>G (DNAAF4)
ENST00000522437.1:c.*203T>G (DNAAF4)	ENSP00000429219.1:n.*203T>G
ENST00000524160.5:c.393T>G (DNAAF4)	ENSP00000428097.1:p.Ser131Arg
NM_001033559.2:c.393T>G (DNAAF4)	NP_001028731.1:p.Ser131Arg
NM_001033560.1:c.393T>G (DNAAF4)	NP_001028732.1:p.Ser131Arg
NM_130810.3:c.393T>G (DNAAF4)	NP_570722.2:p.Ser131Arg
NR_037923.1:n.648T>G (DNAAF4-CCPG1)
NM_130810.4:c.393T>G (DNAAF4) MANE Select	NP_570722.2:p.Ser131Arg
NM_001033559.3:c.393T>G (DNAAF4)	NP_001028731.1:p.Ser131Arg
NM_001033560.2:c.393T>G (DNAAF4)	NP_001028732.1:p.Ser131Arg