Canonical Allele Identifier: CA395683166

Gene: RNF40

Linked Data

• ClinVar Variation Id: 2394002
• ClinVar RCV Id: RCV004230504
• gnomAD v4: 16-30766813-C-T
• MyVariant Identifiers: chr16:g.30778134C>T (hg19) ; chr16:g.30766813C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30766813C>T , CM000678.2:g.30766813C>T	GRCh38
NC_000016.9:g.30778134C>T , CM000678.1:g.30778134C>T	GRCh37
NC_000016.8:g.30685635C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324685.11:c.1366C>T MANE Select	ENSP00000325677.6:p.Arg456Cys
ENST00000324685.10:c.1366C>T	ENSP00000325677.6:p.Arg456Cys
ENST00000357890.9:c.1066C>T	ENSP00000350563.5:p.Arg356Cys
ENST00000493683.5:n.1462C>T
ENST00000563683.5:c.1246C>T	ENSP00000455180.1:p.Arg416Cys
NM_001207033.1:c.1366C>T	NP_001193962.1:p.Arg456Cys
NM_001207034.1:c.1066C>T	NP_001193963.1:p.Arg356Cys
NM_001286572.2:c.1366C>T	NP_001273501.1:p.Arg456Cys
NM_014771.3:c.1366C>T	NP_055586.1:p.Arg456Cys
XM_011545997.1:c.1366C>T	XP_011544299.1:p.Arg456Cys
XM_011545998.1:c.1366C>T	XP_011544300.1:p.Arg456Cys
XM_011545999.1:c.1366C>T	XP_011544301.1:p.Arg456Cys
XM_011546000.1:c.1366C>T	XP_011544302.1:p.Arg456Cys
XM_011545997.2:c.1366C>T	XP_011544299.1:p.Arg456Cys
XM_024450500.1:c.1366C>T	XP_024306268.1:p.Arg456Cys
NM_001286572.3:c.1366C>T	NP_001273501.1:p.Arg456Cys
NM_014771.4:c.1366C>T MANE Select	NP_055586.1:p.Arg456Cys