Canonical Allele Identifier: CA371324257

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1751739
• ClinVar RCV Id: RCV002360287
• dbSNP Id: rs777755661
• gnomAD v4: 8-60852847-C-T
• COSMIC: COSM268043
• MyVariant Identifiers: chr8:g.61765406C>T (hg19) ; chr8:g.60852847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852847C>T , CM000670.2:g.60852847C>T	GRCh38
NC_000008.10:g.61765406C>T , CM000670.1:g.61765406C>T	GRCh37
NC_000008.9:g.61927960C>T	NCBI36
NG_007009.1:g.179068C>T , LRG_176:g.179068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6122C>T	ENSP00000512218.1:p.Ser2041Phe
ENST00000423902.7:c.6122C>T MANE Select	ENSP00000392028.1:p.Ser2041Phe
ENST00000423902.6:c.6122C>T	ENSP00000392028.1:p.Ser2041Phe
ENST00000524602.5:c.1717-9382C>T	ENSP00000437061.1:n.1717-9382C>T
NM_001316690.1:c.1717-9382C>T	NP_001303619.1:n.1717-9382C>T
NM_017780.3:c.6122C>T	NP_060250.2:p.Ser2041Phe
XM_011517553.1:c.6212C>T	XP_011515855.1:p.Ser2071Phe
XM_011517554.1:c.6212C>T	XP_011515856.1:p.Ser2071Phe
XM_011517555.1:c.6212C>T	XP_011515857.1:p.Ser2071Phe
XM_011517556.1:c.6212C>T	XP_011515858.1:p.Ser2071Phe
XM_011517557.1:c.4199C>T	XP_011515859.1:p.Ser1400Phe
XM_011517558.1:c.3749C>T	XP_011515860.1:p.Ser1250Phe
XM_011517559.1:c.2957C>T	XP_011515861.1:p.Ser986Phe
XM_011517553.2:c.6212C>T	XP_011515855.1:p.Ser2071Phe
XM_011517554.3:c.6212C>T	XP_011515856.1:p.Ser2071Phe
XM_011517555.2:c.6212C>T	XP_011515857.1:p.Ser2071Phe
XM_017013612.1:c.6212C>T	XP_016869101.1:p.Ser2071Phe
XM_017013613.1:c.6122C>T	XP_016869102.1:p.Ser2041Phe
NM_017780.4:c.6122C>T MANE Select	NP_060250.2:p.Ser2041Phe