Canonical Allele Identifier: CA461105766

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1121209
• ClinVar RCV Id: RCV001451408
• dbSNP Id: rs2129758283
• MyVariant Identifiers: chr8:g.61777676C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865117C>T , CM000670.2:g.60865117C>T	GRCh38
NC_000008.10:g.61777676C>T , CM000670.1:g.61777676C>T	GRCh37
NC_000008.9:g.61940230C>T	NCBI36
NG_007009.1:g.191338C>T , LRG_176:g.191338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1354C>T
ENST00000695852.1:n.285C>T
ENST00000695853.1:c.*1237C>T	ENSP00000512218.1:n.*1237C>T
ENST00000423902.7:c.8178C>T MANE Select	ENSP00000392028.1:p.Ala2726=
ENST00000423902.6:c.8178C>T	ENSP00000392028.1:p.Ala2726=
ENST00000524602.5:c.2031C>T	ENSP00000437061.1:p.Ala677=
ENST00000528280.1:n.224C>T
ENST00000532149.1:n.600C>T
ENST00000618450.1:n.4214C>T
NM_001316690.1:c.2031C>T	NP_001303619.1:p.Ala677=
NM_017780.3:c.8178C>T	NP_060250.2:p.Ala2726=
XM_011517553.1:c.8268C>T	XP_011515855.1:p.Ala2756=
XM_011517554.1:c.8268C>T	XP_011515856.1:p.Ala2756=
XM_011517555.1:c.8265C>T	XP_011515857.1:p.Ala2755=
XM_011517556.1:c.8046C>T	XP_011515858.1:p.Ala2682=
XM_011517557.1:c.6255C>T	XP_011515859.1:p.Ala2085=
XM_011517558.1:c.5805C>T	XP_011515860.1:p.Ala1935=
XM_011517559.1:c.5013C>T	XP_011515861.1:p.Ala1671=
XM_011517553.2:c.8268C>T	XP_011515855.1:p.Ala2756=
XM_011517554.3:c.8268C>T	XP_011515856.1:p.Ala2756=
XM_011517555.2:c.8265C>T	XP_011515857.1:p.Ala2755=
XM_017013612.1:c.8268C>T	XP_016869101.1:p.Ala2756=
XM_017013613.1:c.8175C>T	XP_016869102.1:p.Ala2725=
NM_017780.4:c.8178C>T MANE Select	NP_060250.2:p.Ala2726=