Canonical Allele Identifier: CA4759497

Gene: CHD7

Linked Data

• dbSNP Id: rs757372961
• ExAC: 8:61655454 C / T
• gnomAD v2: 8-61655454-C-T
• gnomAD v4: 8-60742895-C-T
• MyVariant Identifiers: chr8:g.61655454C>T (hg19) ; chr8:g.60742895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60742895C>T , CM000670.2:g.60742895C>T	GRCh38
NC_000008.10:g.61655454C>T , CM000670.1:g.61655454C>T	GRCh37
NC_000008.9:g.61818008C>T	NCBI36
NG_007009.1:g.69116C>T , LRG_176:g.69116C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695848.1:n.1976C>T
ENST00000695849.1:n.1976C>T
ENST00000695853.1:c.1463C>T	ENSP00000512218.1:p.Pro488Leu
ENST00000700671.1:c.1463C>T	ENSP00000515139.1:p.Pro488Leu
ENST00000423902.7:c.1463C>T MANE Select	ENSP00000392028.1:p.Pro488Leu
ENST00000423902.6:c.1463C>T	ENSP00000392028.1:p.Pro488Leu
ENST00000524602.5:c.1463C>T	ENSP00000437061.1:p.Pro488Leu
ENST00000525508.1:c.1463C>T	ENSP00000436027.1:p.Pro488Leu
ENST00000527825.1:c.107C>T
NM_001316690.1:c.1463C>T	NP_001303619.1:p.Pro488Leu
NM_017780.3:c.1463C>T	NP_060250.2:p.Pro488Leu
XM_011517553.1:c.1463C>T	XP_011515855.1:p.Pro488Leu
XM_011517554.1:c.1463C>T	XP_011515856.1:p.Pro488Leu
XM_011517555.1:c.1463C>T	XP_011515857.1:p.Pro488Leu
XM_011517556.1:c.1463C>T	XP_011515858.1:p.Pro488Leu
XM_011517560.1:c.1463C>T	XP_011515862.1:p.Pro488Leu
XM_011517553.2:c.1463C>T	XP_011515855.1:p.Pro488Leu
XM_011517554.3:c.1463C>T	XP_011515856.1:p.Pro488Leu
XM_011517555.2:c.1463C>T	XP_011515857.1:p.Pro488Leu
XM_011517560.2:c.1463C>T	XP_011515862.1:p.Pro488Leu
XM_017013612.1:c.1463C>T	XP_016869101.1:p.Pro488Leu
XM_017013613.1:c.1463C>T	XP_016869102.1:p.Pro488Leu
NM_017780.4:c.1463C>T MANE Select	NP_060250.2:p.Pro488Leu