Canonical Allele Identifier: CA1088644

Gene: ZNF687

Linked Data

• ClinVar Variation Id: 801543
• ClinVar RCV Id: RCV002549666
• dbSNP Id: rs148402804
• ExAC: 1:151262329 C / A
• gnomAD v2: 1-151262329-C-A
• gnomAD v3: 1-151289853-C-A
• gnomAD v4: 1-151289853-C-A
• MyVariant Identifiers: chr1:g.151262329C>A (hg19) ; chr1:g.151289853C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151289853C>A , CM000663.2:g.151289853C>A	GRCh38
NC_000001.10:g.151262329C>A , CM000663.1:g.151262329C>A	GRCh37
NC_000001.9:g.149528953C>A	NCBI36
NG_051575.1:g.13299C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336715.11:c.2810C>A MANE Select	ENSP00000336620.5:p.Pro937His
ENST00000324048.9:c.2810C>A	ENSP00000319829.5:p.Pro937His
ENST00000336715.10:c.2810C>A	ENSP00000336620.5:p.Pro937His
ENST00000426871.1:c.1618C>A
ENST00000449313.5:c.*112C>A	ENSP00000415286.1:n.*112C>A
NM_001304763.1:c.2810C>A	NP_001291692.1:p.Pro937His
NM_001304764.1:c.2810C>A	NP_001291693.1:p.Pro937His
NM_020832.2:c.2810C>A	NP_065883.1:p.Pro937His
XM_005245366.2:c.2837C>A	XP_005245423.1:p.Pro946His
XM_011509811.1:c.2633C>A	XP_011508113.1:p.Pro878His
XM_011509812.1:c.2810C>A	XP_011508114.1:p.Pro937His
XM_011509813.1:c.2810C>A	XP_011508115.1:p.Pro937His
XM_005245366.4:c.2837C>A	XP_005245423.1:p.Pro946His
XM_011509811.2:c.2633C>A	XP_011508113.1:p.Pro878His
XM_011509812.2:c.2810C>A	XP_011508114.1:p.Pro937His
XM_011509813.2:c.2810C>A	XP_011508115.1:p.Pro937His
NM_020832.3:c.2810C>A MANE Select	NP_065883.1:p.Pro937His
NM_001304763.2:c.2810C>A	NP_001291692.1:p.Pro937His
NM_001304764.2:c.2810C>A	NP_001291693.1:p.Pro937His