Canonical Allele Identifier: CA1133221158

Gene: PHF8

Linked Data

• dbSNP Id: rs2065544764
• gnomAD v3: X-53985309-G-C
• gnomAD v4: X-53985309-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985309G>C , CM000685.2:g.53985309G>C	GRCh38
NC_000023.10:g.54011742G>C , CM000685.1:g.54011742G>C	GRCh37
NC_000023.9:g.54028467G>C	NCBI36
NG_021309.1:g.64828C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.1827-82C>G	ENSP00000340051.7:n.1827-82C>G
ENST00000396282.7:c.2130-82C>G	ENSP00000379578.3:n.2130-82C>G
ENST00000686349.1:c.*503C>G	ENSP00000510424.1:n.*503C>G
ENST00000687764.1:c.*1490C>G	ENSP00000509967.1:n.*1490C>G
ENST00000691629.1:n.1494-82C>G
ENST00000338154.11:c.2130-82C>G MANE Select	ENSP00000338868.6:n.2130-82C>G
ENST00000322659.12:c.2079-82C>G	ENSP00000319473.8:n.2079-82C>G
ENST00000338154.10:c.2130-82C>G	ENSP00000338868.6:n.2130-82C>G
ENST00000338946.10:c.1827-82C>G	ENSP00000340051.6:n.1827-82C>G
ENST00000357988.9:c.2238-82C>G	ENSP00000350676.5:n.2238-82C>G
ENST00000396282.6:c.1841-82C>G
ENST00000443302.5:c.1420-82C>G
ENST00000615775.4:c.557-82C>G	ENSP00000482159.1:n.557-82C>G
NM_001184896.1:c.2238-82C>G	NP_001171825.1:n.2238-82C>G
NM_001184897.1:c.1827-82C>G	NP_001171826.1:n.1827-82C>G
NM_001184898.1:c.2079-82C>G	NP_001171827.1:n.2079-82C>G
NM_015107.2:c.2130-82C>G	NP_055922.1:n.2130-82C>G
XM_005261996.1:c.2238-82C>G	XP_005262053.1:n.2238-82C>G
XM_005261997.2:c.2130-82C>G	XP_005262054.1:n.2130-82C>G
XM_005261999.1:c.2130-82C>G	XP_005262056.1:n.2130-82C>G
XM_005262000.1:c.1935-82C>G	XP_005262057.1:n.1935-82C>G
XM_006724585.1:c.2238-82C>G	XP_006724648.1:n.2238-82C>G
XM_011530778.1:c.2238-82C>G	XP_011529080.1:n.2238-82C>G
XM_005261997.4:c.2130-82C>G	XP_005262054.1:n.2130-82C>G
XM_017029361.2:c.2130-82C>G	XP_016884850.1:n.2130-82C>G
XM_017029362.2:c.2130-82C>G	XP_016884851.1:n.2130-82C>G
NM_001184898.2:c.2079-82C>G	NP_001171827.1:n.2079-82C>G
NM_015107.3:c.2130-82C>G MANE Select	NP_055922.1:n.2130-82C>G
NM_001184897.2:c.1827-82C>G	NP_001171826.1:n.1827-82C>G