Canonical Allele Identifier: CA641893645

Gene: PHF8

Linked Data

• dbSNP Id: rs1217178850
• gnomAD v2: X-54044083-T-C
• gnomAD v3: X-54017650-T-C
• gnomAD v4: X-54017650-T-C
• MyVariant Identifiers: chrX:g.54044083T>C (hg19) ; chrX:g.54017650T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54017650T>C , CM000685.2:g.54017650T>C	GRCh38
NC_000023.10:g.54044083T>C , CM000685.1:g.54044083T>C	GRCh37
NC_000023.9:g.54060808T>C	NCBI36
NG_021309.1:g.32487A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000338946.11:c.454+11A>G	ENSP00000340051.7:n.454+11A>G
ENST00000396282.7:c.454+11A>G	ENSP00000379578.3:n.454+11A>G
ENST00000686349.1:c.454+11A>G	ENSP00000510424.1:n.454+11A>G
ENST00000687764.1:c.454+11A>G	ENSP00000509967.1:n.454+11A>G
ENST00000691629.1:n.147+4609A>G
ENST00000338154.11:c.454+11A>G MANE Select	ENSP00000338868.6:n.454+11A>G
ENST00000322659.12:c.454+11A>G	ENSP00000319473.8:n.454+11A>G
ENST00000338154.10:c.454+11A>G	ENSP00000338868.6:n.454+11A>G
ENST00000338946.10:c.454+11A>G	ENSP00000340051.6:n.454+11A>G
ENST00000357988.9:c.562+11A>G	ENSP00000350676.5:n.562+11A>G
ENST00000396282.6:c.165+11A>G
NM_001184896.1:c.562+11A>G	NP_001171825.1:n.562+11A>G
NM_001184897.1:c.454+11A>G	NP_001171826.1:n.454+11A>G
NM_001184898.1:c.454+11A>G	NP_001171827.1:n.454+11A>G
NM_015107.2:c.454+11A>G	NP_055922.1:n.454+11A>G
XM_005261996.1:c.562+11A>G	XP_005262053.1:n.562+11A>G
XM_005261997.2:c.454+11A>G	XP_005262054.1:n.454+11A>G
XM_005261999.1:c.454+11A>G	XP_005262056.1:n.454+11A>G
XM_005262000.1:c.562+11A>G	XP_005262057.1:n.562+11A>G
XM_006724585.1:c.562+11A>G	XP_006724648.1:n.562+11A>G
XM_011530778.1:c.562+11A>G	XP_011529080.1:n.562+11A>G
XM_005261997.4:c.454+11A>G	XP_005262054.1:n.454+11A>G
XM_017029361.2:c.454+11A>G	XP_016884850.1:n.454+11A>G
XM_017029362.2:c.454+11A>G	XP_016884851.1:n.454+11A>G
NM_001184898.2:c.454+11A>G	NP_001171827.1:n.454+11A>G
NM_015107.3:c.454+11A>G MANE Select	NP_055922.1:n.454+11A>G
NM_001184897.2:c.454+11A>G	NP_001171826.1:n.454+11A>G