Canonical Allele Identifier: CA371308061

Gene: CHD7

Linked Data

• dbSNP Id: rs1469714222
• MyVariant Identifiers: chr8:g.61777774A>C (hg19) ; chr8:g.60865215A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865215A>C , CM000670.2:g.60865215A>C	GRCh38
NC_000008.10:g.61777774A>C , CM000670.1:g.61777774A>C	GRCh37
NC_000008.9:g.61940328A>C	NCBI36
NG_007009.1:g.191436A>C , LRG_176:g.191436A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1452A>C
ENST00000695852.1:n.383A>C
ENST00000695853.1:c.*1335A>C	ENSP00000512218.1:n.*1335A>C
ENST00000423902.7:c.8276A>C MANE Select	ENSP00000392028.1:p.Gln2759Pro
ENST00000423902.6:c.8276A>C	ENSP00000392028.1:p.Gln2759Pro
ENST00000524602.5:c.2129A>C	ENSP00000437061.1:p.Gln710Pro
ENST00000528280.1:n.322A>C
NM_001316690.1:c.2129A>C	NP_001303619.1:p.Gln710Pro
NM_017780.3:c.8276A>C	NP_060250.2:p.Gln2759Pro
XM_011517553.1:c.8366A>C	XP_011515855.1:p.Gln2789Pro
XM_011517554.1:c.8366A>C	XP_011515856.1:p.Gln2789Pro
XM_011517555.1:c.8363A>C	XP_011515857.1:p.Gln2788Pro
XM_011517556.1:c.8144A>C	XP_011515858.1:p.Gln2715Pro
XM_011517557.1:c.6353A>C	XP_011515859.1:p.Gln2118Pro
XM_011517558.1:c.5903A>C	XP_011515860.1:p.Gln1968Pro
XM_011517559.1:c.5111A>C	XP_011515861.1:p.Gln1704Pro
XM_011517553.2:c.8366A>C	XP_011515855.1:p.Gln2789Pro
XM_011517554.3:c.8366A>C	XP_011515856.1:p.Gln2789Pro
XM_011517555.2:c.8363A>C	XP_011515857.1:p.Gln2788Pro
XM_017013612.1:c.8366A>C	XP_016869101.1:p.Gln2789Pro
XM_017013613.1:c.8273A>C	XP_016869102.1:p.Gln2758Pro
NM_017780.4:c.8276A>C MANE Select	NP_060250.2:p.Gln2759Pro