Canonical Allele Identifier: CA396759750

Gene: RFWD3

Linked Data

• ClinVar Variation Id: 446412
• ClinVar RCV Id: RCV000515641 ; RCV001194816
• dbSNP Id: rs1555524842
• MyVariant Identifiers: chr16:g.74662403A>T (hg19) ; chr16:g.74628505A>T (hg38)
• PubMed: PMID:28691929

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.74628505A>T , CM000678.2:g.74628505A>T	GRCh38
NC_000016.9:g.74662403A>T , CM000678.1:g.74662403A>T	GRCh37
NC_000016.8:g.73219904A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361070.9:c.1916T>A MANE Select	ENSP00000354361.4:p.Ile639Lys
ENST00000361070.8:c.1916T>A	ENSP00000354361.4:p.Ile639Lys
ENST00000571750.5:c.1916T>A	ENSP00000460049.1:p.Ile639Lys
NM_018124.3:c.1916T>A	NP_060594.3:p.Ile639Lys
XM_005256021.3:c.1916T>A	XP_005256078.1:p.Ile639Lys
XM_005256022.3:c.1916T>A	XP_005256079.1:p.Ile639Lys
XM_006721228.2:c.1739T>A	XP_006721291.1:p.Ile580Lys
XM_011523191.1:c.1916T>A	XP_011521493.1:p.Ile639Lys
XM_005256021.4:c.1916T>A	XP_005256078.1:p.Ile639Lys
XM_005256022.4:c.1916T>A	XP_005256079.1:p.Ile639Lys
XM_006721228.3:c.1739T>A	XP_006721291.1:p.Ile580Lys
XM_011523191.3:c.1916T>A	XP_011521493.1:p.Ile639Lys
XM_017023391.1:c.1916T>A	XP_016878880.1:p.Ile639Lys
XM_017023392.1:c.1739T>A	XP_016878881.1:p.Ile580Lys
NM_018124.4:c.1916T>A MANE Select	NP_060594.3:p.Ile639Lys
NM_001370534.1:c.1916T>A	NP_001357463.1:p.Ile639Lys
NM_001370535.1:c.1916T>A	NP_001357464.1:p.Ile639Lys
NM_001370536.1:c.1739T>A	NP_001357465.1:p.Ile580Lys
NM_001370537.1:c.1082T>A	NP_001357466.1:p.Ile361Lys
NM_001370539.1:c.1082T>A	NP_001357468.1:p.Ile361Lys
NM_001370540.1:c.1082T>A	NP_001357469.1:p.Ile361Lys
NM_001370542.1:c.1082T>A	NP_001357471.1:p.Ile361Lys
NM_001370543.1:c.1082T>A	NP_001357472.1:p.Ile361Lys