Canonical Allele Identifier: CA371324841

Gene: CHD7

Linked Data

• dbSNP Id: rs1232231607
• gnomAD v2: 8-61765624-T-G
• gnomAD v4: 8-60853065-T-G
• MyVariant Identifiers: chr8:g.61765624T>G (hg19) ; chr8:g.60853065T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853065T>G , CM000670.2:g.60853065T>G	GRCh38
NC_000008.10:g.61765624T>G , CM000670.1:g.61765624T>G	GRCh37
NC_000008.9:g.61928178T>G	NCBI36
NG_007009.1:g.179286T>G , LRG_176:g.179286T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6340T>G	ENSP00000512218.1:p.Tyr2114Asp
ENST00000423902.7:c.6340T>G MANE Select	ENSP00000392028.1:p.Tyr2114Asp
ENST00000423902.6:c.6340T>G	ENSP00000392028.1:p.Tyr2114Asp
ENST00000524602.5:c.1717-9164T>G	ENSP00000437061.1:n.1717-9164T>G
NM_001316690.1:c.1717-9164T>G	NP_001303619.1:n.1717-9164T>G
NM_017780.3:c.6340T>G	NP_060250.2:p.Tyr2114Asp
XM_011517553.1:c.6430T>G	XP_011515855.1:p.Tyr2144Asp
XM_011517554.1:c.6430T>G	XP_011515856.1:p.Tyr2144Asp
XM_011517555.1:c.6430T>G	XP_011515857.1:p.Tyr2144Asp
XM_011517556.1:c.6430T>G	XP_011515858.1:p.Tyr2144Asp
XM_011517557.1:c.4417T>G	XP_011515859.1:p.Tyr1473Asp
XM_011517558.1:c.3967T>G	XP_011515860.1:p.Tyr1323Asp
XM_011517559.1:c.3175T>G	XP_011515861.1:p.Tyr1059Asp
XM_011517553.2:c.6430T>G	XP_011515855.1:p.Tyr2144Asp
XM_011517554.3:c.6430T>G	XP_011515856.1:p.Tyr2144Asp
XM_011517555.2:c.6430T>G	XP_011515857.1:p.Tyr2144Asp
XM_017013612.1:c.6430T>G	XP_016869101.1:p.Tyr2144Asp
XM_017013613.1:c.6340T>G	XP_016869102.1:p.Tyr2114Asp
NM_017780.4:c.6340T>G MANE Select	NP_060250.2:p.Tyr2114Asp