Canonical Allele Identifier: CA395680709

Gene: ZNF646

Linked Data

• ClinVar Variation Id: 2298689
• ClinVar RCV Id: RCV004147804
• MyVariant Identifiers: chr16:g.31088715T>G (hg19) ; chr16:g.31077394T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31077394T>G , CM000678.2:g.31077394T>G	GRCh38
NC_000016.9:g.31088715T>G , CM000678.1:g.31088715T>G	GRCh37
NC_000016.8:g.30996216T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300850.5:c.1070T>G MANE Select	ENSP00000300850.5:p.Leu357Arg
ENST00000394979.2:c.1070T>G	ENSP00000378429.2:p.Leu357Arg
NM_014699.3:c.1070T>G	NP_055514.3:p.Leu357Arg
XM_005255710.2:c.1070T>G	XP_005255767.1:p.Leu357Arg
XM_005255711.2:c.1070T>G	XP_005255768.1:p.Leu357Arg
XM_005255712.2:c.1070T>G	XP_005255769.1:p.Leu357Arg
XM_011545990.1:c.1070T>G	XP_011544292.1:p.Leu357Arg
XM_005255710.4:c.1070T>G	XP_005255767.1:p.Leu357Arg
XM_005255711.4:c.1070T>G	XP_005255768.1:p.Leu357Arg
XM_005255712.4:c.1070T>G	XP_005255769.1:p.Leu357Arg
XM_011545990.2:c.1070T>G	XP_011544292.1:p.Leu357Arg
XR_001752041.1:n.1095T>G
NM_014699.4:c.1070T>G MANE Select	NP_055514.3:p.Leu357Arg