Canonical Allele Identifier: CA8169253

Gene: RFWD3

Linked Data

• dbSNP Id: rs748374779
• ExAC: 16:74670358 A / G
• gnomAD v2: 16-74670358-A-G
• gnomAD v4: 16-74636460-A-G
• MyVariant Identifiers: chr16:g.74670358A>G (hg19) ; chr16:g.74636460A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74636460A>G , CM000678.2:g.74636460A>G	GRCh38
NC_000016.9:g.74670358A>G , CM000678.1:g.74670358A>G	GRCh37
NC_000016.8:g.73227859A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000361070.9:c.1312T>C MANE Select	ENSP00000354361.4:p.Phe438Leu
ENST00000361070.8:c.1312T>C	ENSP00000354361.4:p.Phe438Leu
ENST00000571750.5:c.1312T>C	ENSP00000460049.1:p.Phe438Leu
NM_018124.3:c.1312T>C	NP_060594.3:p.Phe438Leu
XM_005256021.3:c.1312T>C	XP_005256078.1:p.Phe438Leu
XM_005256022.3:c.1312T>C	XP_005256079.1:p.Phe438Leu
XM_006721228.2:c.1312T>C	XP_006721291.1:p.Phe438Leu
XM_011523191.1:c.1312T>C	XP_011521493.1:p.Phe438Leu
XM_005256021.4:c.1312T>C	XP_005256078.1:p.Phe438Leu
XM_005256022.4:c.1312T>C	XP_005256079.1:p.Phe438Leu
XM_006721228.3:c.1312T>C	XP_006721291.1:p.Phe438Leu
XM_011523191.3:c.1312T>C	XP_011521493.1:p.Phe438Leu
XM_017023391.1:c.1312T>C	XP_016878880.1:p.Phe438Leu
XM_017023392.1:c.1312T>C	XP_016878881.1:p.Phe438Leu
NM_018124.4:c.1312T>C MANE Select	NP_060594.3:p.Phe438Leu
NM_001370534.1:c.1312T>C	NP_001357463.1:p.Phe438Leu
NM_001370535.1:c.1312T>C	NP_001357464.1:p.Phe438Leu
NM_001370536.1:c.1312T>C	NP_001357465.1:p.Phe438Leu
NM_001370537.1:c.478T>C	NP_001357466.1:p.Phe160Leu
NM_001370539.1:c.478T>C	NP_001357468.1:p.Phe160Leu
NM_001370540.1:c.478T>C	NP_001357469.1:p.Phe160Leu
NM_001370542.1:c.478T>C	NP_001357471.1:p.Phe160Leu
NM_001370543.1:c.478T>C	NP_001357472.1:p.Phe160Leu