Canonical Allele Identifier: CA371307365

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865083-G-T
• MyVariant Identifiers: chr8:g.61777642G>T (hg19) ; chr8:g.60865083G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865083G>T , CM000670.2:g.60865083G>T	GRCh38
NC_000008.10:g.61777642G>T , CM000670.1:g.61777642G>T	GRCh37
NC_000008.9:g.61940196G>T	NCBI36
NG_007009.1:g.191304G>T , LRG_176:g.191304G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1320G>T
ENST00000695852.1:n.251G>T
ENST00000695853.1:c.*1203G>T	ENSP00000512218.1:n.*1203G>T
ENST00000423902.7:c.8144G>T MANE Select	ENSP00000392028.1:p.Ser2715Ile
ENST00000423902.6:c.8144G>T	ENSP00000392028.1:p.Ser2715Ile
ENST00000524602.5:c.1997G>T	ENSP00000437061.1:p.Ser666Ile
ENST00000528280.1:n.190G>T
ENST00000532149.1:n.566G>T
ENST00000618450.1:n.4180G>T
NM_001316690.1:c.1997G>T	NP_001303619.1:p.Ser666Ile
NM_017780.3:c.8144G>T	NP_060250.2:p.Ser2715Ile
XM_011517553.1:c.8234G>T	XP_011515855.1:p.Ser2745Ile
XM_011517554.1:c.8234G>T	XP_011515856.1:p.Ser2745Ile
XM_011517555.1:c.8231G>T	XP_011515857.1:p.Ser2744Ile
XM_011517556.1:c.8012G>T	XP_011515858.1:p.Ser2671Ile
XM_011517557.1:c.6221G>T	XP_011515859.1:p.Ser2074Ile
XM_011517558.1:c.5771G>T	XP_011515860.1:p.Ser1924Ile
XM_011517559.1:c.4979G>T	XP_011515861.1:p.Ser1660Ile
XM_011517553.2:c.8234G>T	XP_011515855.1:p.Ser2745Ile
XM_011517554.3:c.8234G>T	XP_011515856.1:p.Ser2745Ile
XM_011517555.2:c.8231G>T	XP_011515857.1:p.Ser2744Ile
XM_017013612.1:c.8234G>T	XP_016869101.1:p.Ser2745Ile
XM_017013613.1:c.8141G>T	XP_016869102.1:p.Ser2714Ile
NM_017780.4:c.8144G>T MANE Select	NP_060250.2:p.Ser2715Ile