Canonical Allele Identifier: CA461105740

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1187862
• ClinVar RCV Id: RCV001547444
• dbSNP Id: rs2129757929
• MyVariant Identifiers: chr8:g.61777661C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865102C>A , CM000670.2:g.60865102C>A	GRCh38
NC_000008.10:g.61777661C>A , CM000670.1:g.61777661C>A	GRCh37
NC_000008.9:g.61940215C>A	NCBI36
NG_007009.1:g.191323C>A , LRG_176:g.191323C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1339C>A
ENST00000695852.1:n.270C>A
ENST00000695853.1:c.*1222C>A	ENSP00000512218.1:n.*1222C>A
ENST00000423902.7:c.8163C>A MANE Select	ENSP00000392028.1:p.Pro2721=
ENST00000423902.6:c.8163C>A	ENSP00000392028.1:p.Pro2721=
ENST00000524602.5:c.2016C>A	ENSP00000437061.1:p.Pro672=
ENST00000528280.1:n.209C>A
ENST00000532149.1:n.585C>A
ENST00000618450.1:n.4199C>A
NM_001316690.1:c.2016C>A	NP_001303619.1:p.Pro672=
NM_017780.3:c.8163C>A	NP_060250.2:p.Pro2721=
XM_011517553.1:c.8253C>A	XP_011515855.1:p.Pro2751=
XM_011517554.1:c.8253C>A	XP_011515856.1:p.Pro2751=
XM_011517555.1:c.8250C>A	XP_011515857.1:p.Pro2750=
XM_011517556.1:c.8031C>A	XP_011515858.1:p.Pro2677=
XM_011517557.1:c.6240C>A	XP_011515859.1:p.Pro2080=
XM_011517558.1:c.5790C>A	XP_011515860.1:p.Pro1930=
XM_011517559.1:c.4998C>A	XP_011515861.1:p.Pro1666=
XM_011517553.2:c.8253C>A	XP_011515855.1:p.Pro2751=
XM_011517554.3:c.8253C>A	XP_011515856.1:p.Pro2751=
XM_011517555.2:c.8250C>A	XP_011515857.1:p.Pro2750=
XM_017013612.1:c.8253C>A	XP_016869101.1:p.Pro2751=
XM_017013613.1:c.8160C>A	XP_016869102.1:p.Pro2720=
NM_017780.4:c.8163C>A MANE Select	NP_060250.2:p.Pro2721=