Canonical Allele Identifier: CA364376952

Gene: PHF3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63712052G>C , CM000668.2:g.63712052G>C	GRCh38
NC_000006.11:g.64421948G>C , CM000668.1:g.64421948G>C	GRCh37
NC_000006.10:g.64479907G>C	NCBI36
NG_034034.1:g.81251G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001370348.2:c.4464G>C MANE Select	NP_001357277.1:p.Met1488Ile
ENST00000262043.8:c.4464G>C MANE Select	ENSP00000262043.4:p.Met1488Ile
NM_001290259.1:c.4200G>C	NP_001277188.1:p.Met1400Ile
NM_001290259.2:c.4200G>C	NP_001277188.1:p.Met1400Ile
NM_001370349.2:c.4200G>C	NP_001357278.1:p.Met1400Ile
NM_001370350.2:c.2271G>C	NP_001357279.1:p.Met757Ile
NM_015153.3:c.4464G>C	NP_055968.1:p.Met1488Ile
NM_015153.4:c.4464G>C	NP_055968.1:p.Met1488Ile
ENST00000262043.7:c.4464G>C	ENSP00000262043.3:p.Met1488Ile
ENST00000393387.5:c.4464G>C	ENSP00000377048.1:p.Met1488Ile
ENST00000505138.1:c.363+690G>C
ENST00000509876.5:c.*4408G>C	ENSP00000424994.1:n.*4408G>C
ENST00000515594.5:c.2271G>C	ENSP00000425338.1:p.Met757Ile
XM_005248701.2:c.4464G>C	XP_005248758.1:p.Met1488Ile
XM_005248701.4:c.4464G>C	XP_005248758.1:p.Met1488Ile
XM_005248702.2:c.4200G>C	XP_005248759.1:p.Met1400Ile
XM_005248702.3:c.4200G>C	XP_005248759.1:p.Met1400Ile
XM_005248703.2:c.2271G>C	XP_005248760.1:p.Met757Ile
XM_005248703.4:c.2271G>C	XP_005248760.1:p.Met757Ile
XM_006715426.2:c.4464G>C	XP_006715489.1:p.Met1488Ile
XM_006715426.3:c.4464G>C	XP_006715489.1:p.Met1488Ile
XM_006715427.2:c.1890G>C	XP_006715490.1:p.Met630Ile
XM_011535648.1:c.4491G>C	XP_011533950.1:p.Met1497Ile
XM_011535648.3:c.4491G>C	XP_011533950.1:p.Met1497Ile
XM_017010626.1:c.2271G>C	XP_016866115.1:p.Met757Ile