Canonical Allele Identifier: CA371307446

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1393105
• ClinVar RCV Id: RCV001912487
• dbSNP Id: rs1586467143
• gnomAD v4: 8-60865103-A-C
• MyVariant Identifiers: chr8:g.61777662A>C (hg19) ; chr8:g.60865103A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865103A>C , CM000670.2:g.60865103A>C	GRCh38
NC_000008.10:g.61777662A>C , CM000670.1:g.61777662A>C	GRCh37
NC_000008.9:g.61940216A>C	NCBI36
NG_007009.1:g.191324A>C , LRG_176:g.191324A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1340A>C
ENST00000695852.1:n.271A>C
ENST00000695853.1:c.*1223A>C	ENSP00000512218.1:n.*1223A>C
ENST00000423902.7:c.8164A>C MANE Select	ENSP00000392028.1:p.Lys2722Gln
ENST00000423902.6:c.8164A>C	ENSP00000392028.1:p.Lys2722Gln
ENST00000524602.5:c.2017A>C	ENSP00000437061.1:p.Lys673Gln
ENST00000528280.1:n.210A>C
ENST00000532149.1:n.586A>C
ENST00000618450.1:n.4200A>C
NM_001316690.1:c.2017A>C	NP_001303619.1:p.Lys673Gln
NM_017780.3:c.8164A>C	NP_060250.2:p.Lys2722Gln
XM_011517553.1:c.8254A>C	XP_011515855.1:p.Lys2752Gln
XM_011517554.1:c.8254A>C	XP_011515856.1:p.Lys2752Gln
XM_011517555.1:c.8251A>C	XP_011515857.1:p.Lys2751Gln
XM_011517556.1:c.8032A>C	XP_011515858.1:p.Lys2678Gln
XM_011517557.1:c.6241A>C	XP_011515859.1:p.Lys2081Gln
XM_011517558.1:c.5791A>C	XP_011515860.1:p.Lys1931Gln
XM_011517559.1:c.4999A>C	XP_011515861.1:p.Lys1667Gln
XM_011517553.2:c.8254A>C	XP_011515855.1:p.Lys2752Gln
XM_011517554.3:c.8254A>C	XP_011515856.1:p.Lys2752Gln
XM_011517555.2:c.8251A>C	XP_011515857.1:p.Lys2751Gln
XM_017013612.1:c.8254A>C	XP_016869101.1:p.Lys2752Gln
XM_017013613.1:c.8161A>C	XP_016869102.1:p.Lys2721Gln
NM_017780.4:c.8164A>C MANE Select	NP_060250.2:p.Lys2722Gln