Canonical Allele Identifier: CA371307739

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865151-A-C
• MyVariant Identifiers: chr8:g.61777710A>C (hg19) ; chr8:g.60865151A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865151A>C , CM000670.2:g.60865151A>C	GRCh38
NC_000008.10:g.61777710A>C , CM000670.1:g.61777710A>C	GRCh37
NC_000008.9:g.61940264A>C	NCBI36
NG_007009.1:g.191372A>C , LRG_176:g.191372A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1388A>C
ENST00000695852.1:n.319A>C
ENST00000695853.1:c.*1271A>C	ENSP00000512218.1:n.*1271A>C
ENST00000423902.7:c.8212A>C MANE Select	ENSP00000392028.1:p.Thr2738Pro
ENST00000423902.6:c.8212A>C	ENSP00000392028.1:p.Thr2738Pro
ENST00000524602.5:c.2065A>C	ENSP00000437061.1:p.Thr689Pro
ENST00000528280.1:n.258A>C
NM_001316690.1:c.2065A>C	NP_001303619.1:p.Thr689Pro
NM_017780.3:c.8212A>C	NP_060250.2:p.Thr2738Pro
XM_011517553.1:c.8302A>C	XP_011515855.1:p.Thr2768Pro
XM_011517554.1:c.8302A>C	XP_011515856.1:p.Thr2768Pro
XM_011517555.1:c.8299A>C	XP_011515857.1:p.Thr2767Pro
XM_011517556.1:c.8080A>C	XP_011515858.1:p.Thr2694Pro
XM_011517557.1:c.6289A>C	XP_011515859.1:p.Thr2097Pro
XM_011517558.1:c.5839A>C	XP_011515860.1:p.Thr1947Pro
XM_011517559.1:c.5047A>C	XP_011515861.1:p.Thr1683Pro
XM_011517553.2:c.8302A>C	XP_011515855.1:p.Thr2768Pro
XM_011517554.3:c.8302A>C	XP_011515856.1:p.Thr2768Pro
XM_011517555.2:c.8299A>C	XP_011515857.1:p.Thr2767Pro
XM_017013612.1:c.8302A>C	XP_016869101.1:p.Thr2768Pro
XM_017013613.1:c.8209A>C	XP_016869102.1:p.Thr2737Pro
NM_017780.4:c.8212A>C MANE Select	NP_060250.2:p.Thr2738Pro