Canonical Allele Identifier: CA177329140

Gene: CHD7

Linked Data

• dbSNP Id: rs756347672
• gnomAD v3: 8-60865107-G-C
• gnomAD v4: 8-60865107-G-C
• MyVariant Identifiers: chr8:g.61777666G>C (hg19) ; chr8:g.60865107G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865107G>C , CM000670.2:g.60865107G>C	GRCh38
NC_000008.10:g.61777666G>C , CM000670.1:g.61777666G>C	GRCh37
NC_000008.9:g.61940220G>C	NCBI36
NG_007009.1:g.191328G>C , LRG_176:g.191328G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1344G>C
ENST00000695852.1:n.275G>C
ENST00000695853.1:c.*1227G>C	ENSP00000512218.1:n.*1227G>C
ENST00000423902.7:c.8168G>C MANE Select	ENSP00000392028.1:p.Ser2723Thr
ENST00000423902.6:c.8168G>C	ENSP00000392028.1:p.Ser2723Thr
ENST00000524602.5:c.2021G>C	ENSP00000437061.1:p.Ser674Thr
ENST00000528280.1:n.214G>C
ENST00000532149.1:n.590G>C
ENST00000618450.1:n.4204G>C
NM_001316690.1:c.2021G>C	NP_001303619.1:p.Ser674Thr
NM_017780.3:c.8168G>C	NP_060250.2:p.Ser2723Thr
XM_011517553.1:c.8258G>C	XP_011515855.1:p.Ser2753Thr
XM_011517554.1:c.8258G>C	XP_011515856.1:p.Ser2753Thr
XM_011517555.1:c.8255G>C	XP_011515857.1:p.Ser2752Thr
XM_011517556.1:c.8036G>C	XP_011515858.1:p.Ser2679Thr
XM_011517557.1:c.6245G>C	XP_011515859.1:p.Ser2082Thr
XM_011517558.1:c.5795G>C	XP_011515860.1:p.Ser1932Thr
XM_011517559.1:c.5003G>C	XP_011515861.1:p.Ser1668Thr
XM_011517553.2:c.8258G>C	XP_011515855.1:p.Ser2753Thr
XM_011517554.3:c.8258G>C	XP_011515856.1:p.Ser2753Thr
XM_011517555.2:c.8255G>C	XP_011515857.1:p.Ser2752Thr
XM_017013612.1:c.8258G>C	XP_016869101.1:p.Ser2753Thr
XM_017013613.1:c.8165G>C	XP_016869102.1:p.Ser2722Thr
NM_017780.4:c.8168G>C MANE Select	NP_060250.2:p.Ser2723Thr