Canonical Allele Identifier: CA204401

Gene: BRD7

Linked Data

• ClinVar Variation Id: 208203
• ClinVar RCV Id: RCV000190398
• dbSNP Id: rs796065051
• gnomAD v2: 16-50353864-G-A
• COSMIC: COSM190399
• MyVariant Identifiers: chr16:g.50353864G>A (hg19) ; chr16:g.50319953G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50319953G>A , CM000678.2:g.50319953G>A	GRCh38
NC_000016.9:g.50353864G>A , CM000678.1:g.50353864G>A	GRCh37
NC_000016.8:g.48911365G>A	NCBI36
NG_023418.1:g.53982C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710356.1:c.1885C>T	ENSP00000518227.1:p.Arg629Ter
ENST00000710357.1:c.1957C>T	ENSP00000518228.1:p.Arg653Ter
ENST00000394688.8:c.1834C>T MANE Select	ENSP00000378180.3:p.Arg612Ter
ENST00000394688.7:c.1834C>T	ENSP00000378180.3:p.Arg612Ter
ENST00000394689.2:c.1837C>T	ENSP00000378181.2:p.Arg613Ter
ENST00000569774.6:c.208C>T	ENSP00000461556.1:p.Arg70Ter
NM_001173984.2:c.1837C>T	NP_001167455.1:p.Arg613Ter
NM_013263.4:c.1834C>T	NP_037395.2:p.Arg612Ter
XM_011523046.1:c.1888C>T	XP_011521348.1:p.Arg630Ter
XM_011523047.1:c.1885C>T	XP_011521349.1:p.Arg629Ter
XM_011523048.1:c.1780C>T	XP_011521350.1:p.Arg594Ter
XM_011523049.1:c.1777C>T	XP_011521351.1:p.Arg593Ter
XM_011523050.1:c.1231C>T	XP_011521352.1:p.Arg411Ter
XR_933289.1:n.1965C>T
XR_933290.1:n.1962C>T
XR_933291.1:n.1860C>T
XM_011523046.3:c.1888C>T	XP_011521348.1:p.Arg630Ter
XM_011523047.2:c.1885C>T	XP_011521349.1:p.Arg629Ter
XM_011523048.2:c.1780C>T	XP_011521350.1:p.Arg594Ter
XM_011523049.2:c.1777C>T	XP_011521351.1:p.Arg593Ter
XM_011523050.3:c.1231C>T	XP_011521352.1:p.Arg411Ter
XM_017023179.1:c.1729C>T	XP_016878668.1:p.Arg577Ter
XM_017023180.1:c.1726C>T	XP_016878669.1:p.Arg576Ter
XM_017023181.1:c.1228C>T	XP_016878670.1:p.Arg410Ter
XR_001751896.2:n.1785C>T
XR_933289.3:n.1971C>T
XR_933290.3:n.1968C>T
XR_933291.3:n.1863C>T
NM_001173984.3:c.1837C>T	NP_001167455.1:p.Arg613Ter
NM_013263.5:c.1834C>T MANE Select	NP_037395.2:p.Arg612Ter