Canonical Allele Identifier: CA371310433

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2057471
• ClinVar RCV Id: RCV002941999
• dbSNP Id: rs199565939
• MyVariant Identifiers: chr8:g.61778048T>G (hg19) ; chr8:g.60865489T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865489T>G , CM000670.2:g.60865489T>G	GRCh38
NC_000008.10:g.61778048T>G , CM000670.1:g.61778048T>G	GRCh37
NC_000008.9:g.61940602T>G	NCBI36
NG_007009.1:g.191710T>G , LRG_176:g.191710T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1726T>G
ENST00000695852.1:n.657T>G
ENST00000695853.1:c.*1609T>G	ENSP00000512218.1:n.*1609T>G
ENST00000423902.7:c.8550T>G MANE Select	ENSP00000392028.1:p.Asn2850Lys
ENST00000423902.6:c.8550T>G	ENSP00000392028.1:p.Asn2850Lys
ENST00000524602.5:c.2403T>G	ENSP00000437061.1:p.Asn801Lys
NM_001316690.1:c.2403T>G	NP_001303619.1:p.Asn801Lys
NM_017780.3:c.8550T>G	NP_060250.2:p.Asn2850Lys
XM_011517553.1:c.8640T>G	XP_011515855.1:p.Asn2880Lys
XM_011517554.1:c.8640T>G	XP_011515856.1:p.Asn2880Lys
XM_011517555.1:c.8637T>G	XP_011515857.1:p.Asn2879Lys
XM_011517556.1:c.8418T>G	XP_011515858.1:p.Asn2806Lys
XM_011517557.1:c.6627T>G	XP_011515859.1:p.Asn2209Lys
XM_011517558.1:c.6177T>G	XP_011515860.1:p.Asn2059Lys
XM_011517559.1:c.5385T>G	XP_011515861.1:p.Asn1795Lys
XM_011517553.2:c.8640T>G	XP_011515855.1:p.Asn2880Lys
XM_011517554.3:c.8640T>G	XP_011515856.1:p.Asn2880Lys
XM_011517555.2:c.8637T>G	XP_011515857.1:p.Asn2879Lys
XM_017013612.1:c.8640T>G	XP_016869101.1:p.Asn2880Lys
XM_017013613.1:c.8547T>G	XP_016869102.1:p.Asn2849Lys
NM_017780.4:c.8550T>G MANE Select	NP_060250.2:p.Asn2850Lys