Canonical Allele Identifier: CA156125

Gene: ZNF407

Linked Data

• ClinVar Variation Id: 130822
• ClinVar RCV Id: RCV000118939 ; RCV003407508 ; RCV003915181
• dbSNP Id: rs200158544
• ExAC: 18:72343402 G / T
• gnomAD v2: 18-72343402-G-T
• gnomAD v3: 18-74631446-G-T
• gnomAD v4: 18-74631446-G-T
• MyVariant Identifiers: chr18:g.72343402G>T (hg19) ; chr18:g.74631446G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.74631446G>T , CM000680.2:g.74631446G>T	GRCh38
NC_000018.9:g.72343402G>T , CM000680.1:g.72343402G>T	GRCh37
NC_000018.8:g.70472390G>T	NCBI36
NG_013216.1:g.5484G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299687.10:c.427G>T MANE Select	ENSP00000299687.4:p.Val143Phe
ENST00000299687.9:c.427G>T	ENSP00000299687.4:p.Val143Phe
ENST00000309902.10:c.427G>T	ENSP00000310359.5:p.Val143Phe
ENST00000577538.5:c.427G>T	ENSP00000463270.1:p.Val143Phe
ENST00000582337.5:c.427G>T	ENSP00000462348.1:p.Val143Phe
NM_001146189.1:c.427G>T	NP_001139661.1:p.Val143Phe
NM_001146190.1:c.427G>T	NP_001139662.1:p.Val143Phe
NM_017757.2:c.427G>T	NP_060227.2:p.Val143Phe
XM_005266726.3:c.427G>T	XP_005266783.1:p.Val143Phe
XM_006722500.2:c.427G>T	XP_006722563.1:p.Val143Phe
XM_006722501.2:c.427G>T	XP_006722564.1:p.Val143Phe
XM_011526068.1:c.427G>T	XP_011524370.1:p.Val143Phe
XM_011526069.1:c.427G>T	XP_011524371.1:p.Val143Phe
XM_011526070.1:c.427G>T	XP_011524372.1:p.Val143Phe
XM_005266726.5:c.427G>T	XP_005266783.1:p.Val143Phe
XM_006722500.4:c.427G>T	XP_006722563.1:p.Val143Phe
XM_011526068.2:c.427G>T	XP_011524370.1:p.Val143Phe
XM_011526069.3:c.427G>T	XP_011524371.1:p.Val143Phe
XM_011526070.2:c.427G>T	XP_011524372.1:p.Val143Phe
XM_017025838.2:c.427G>T	XP_016881327.1:p.Val143Phe
NM_001384475.1:c.427G>T	NP_001371404.1:p.Val143Phe
NM_017757.3:c.427G>T MANE Select	NP_060227.2:p.Val143Phe