Canonical Allele Identifier: CA112036129

Gene: CFAP96

Linked Data

• ClinVar Variation Id: 2233014
• ClinVar RCV Id: RCV004550538
• dbSNP Id: rs983179539
• gnomAD v2: 4-186357492-T-G
• gnomAD v3: 4-185436338-T-G
• gnomAD v4: 4-185436338-T-G
• MyVariant Identifiers: chr4:g.186357492T>G (hg19) ; chr4:g.185436338T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.185436338T>G , CM000666.2:g.185436338T>G	GRCh38
NC_000004.11:g.186357492T>G , CM000666.1:g.186357492T>G	GRCh37
NC_000004.10:g.186594486T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378850.5:c.513T>G MANE Select	ENSP00000368127.4:p.Asp171Glu
ENST00000378850.4:c.513T>G	ENSP00000368127.4:p.Asp171Glu
ENST00000508698.3:c.*127+155T>G	ENSP00000425418.1:n.*127+155T>G
ENST00000511581.5:c.513T>G	ENSP00000423127.1:p.Asp171Glu
NM_001114357.1:c.513T>G	NP_001107829.1:p.Asp171Glu
XM_005263019.3:c.513T>G	XP_005263076.1:p.Asp171Glu
XM_006714224.2:c.513T>G	XP_006714287.1:p.Asp171Glu
XM_011531985.1:c.513T>G	XP_011530287.1:p.Asp171Glu
XM_011531986.1:c.513T>G	XP_011530288.1:p.Asp171Glu
XM_011531987.1:c.513T>G	XP_011530289.1:p.Asp171Glu
XM_011531988.1:c.513T>G	XP_011530290.1:p.Asp171Glu
XM_011531989.1:c.513T>G	XP_011530291.1:p.Asp171Glu
XM_011531990.1:c.312+155T>G	XP_011530292.1:n.312+155T>G
XM_011531991.1:c.156+155T>G	XP_011530293.1:n.156+155T>G
XM_011531992.1:c.458+155T>G	XP_011530294.1:n.458+155T>G
NM_001114357.2:c.513T>G	NP_001107829.1:p.Asp171Glu
NM_001346007.1:c.156+155T>G	NP_001332936.1:n.156+155T>G
XM_011531989.2:c.513T>G	XP_011530291.1:p.Asp171Glu
XM_017008236.1:c.513T>G	XP_016863725.1:p.Asp171Glu
XM_017008237.1:c.513T>G	XP_016863726.1:p.Asp171Glu
XM_017008238.1:c.513T>G	XP_016863727.1:p.Asp171Glu
XM_017008239.1:c.513T>G	XP_016863728.1:p.Asp171Glu
XM_017008240.1:c.513T>G	XP_016863729.1:p.Asp171Glu
XM_017008241.1:c.156+155T>G	XP_016863730.1:n.156+155T>G
NM_001114357.3:c.513T>G MANE Select	NP_001107829.1:p.Asp171Glu
NM_001346007.2:c.156+155T>G	NP_001332936.1:n.156+155T>G