Canonical Allele Identifier: CA4761003

Gene: CHD7

Linked Data

• ClinVar Variation Id: 696162
• ClinVar RCV Id: RCV000862347 ; RCV002501211 ; RCV002434063 ; RCV002062244
• dbSNP Id: rs769500488
• ExAC: 8:61777887 C / T
• gnomAD v2: 8-61777887-C-T
• gnomAD v3: 8-60865328-C-T
• gnomAD v4: 8-60865328-C-T
• MyVariant Identifiers: chr8:g.61777887C>T (hg19) ; chr8:g.60865328C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865328C>T , CM000670.2:g.60865328C>T	GRCh38
NC_000008.10:g.61777887C>T , CM000670.1:g.61777887C>T	GRCh37
NC_000008.9:g.61940441C>T	NCBI36
NG_007009.1:g.191549C>T , LRG_176:g.191549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1565C>T
ENST00000695852.1:n.496C>T
ENST00000695853.1:c.*1448C>T	ENSP00000512218.1:n.*1448C>T
ENST00000423902.7:c.8389C>T MANE Select	ENSP00000392028.1:p.Pro2797Ser
ENST00000423902.6:c.8389C>T	ENSP00000392028.1:p.Pro2797Ser
ENST00000524602.5:c.2242C>T	ENSP00000437061.1:p.Pro748Ser
ENST00000528280.1:n.435C>T
NM_001316690.1:c.2242C>T	NP_001303619.1:p.Pro748Ser
NM_017780.3:c.8389C>T	NP_060250.2:p.Pro2797Ser
XM_011517553.1:c.8479C>T	XP_011515855.1:p.Pro2827Ser
XM_011517554.1:c.8479C>T	XP_011515856.1:p.Pro2827Ser
XM_011517555.1:c.8476C>T	XP_011515857.1:p.Pro2826Ser
XM_011517556.1:c.8257C>T	XP_011515858.1:p.Pro2753Ser
XM_011517557.1:c.6466C>T	XP_011515859.1:p.Pro2156Ser
XM_011517558.1:c.6016C>T	XP_011515860.1:p.Pro2006Ser
XM_011517559.1:c.5224C>T	XP_011515861.1:p.Pro1742Ser
XM_011517553.2:c.8479C>T	XP_011515855.1:p.Pro2827Ser
XM_011517554.3:c.8479C>T	XP_011515856.1:p.Pro2827Ser
XM_011517555.2:c.8476C>T	XP_011515857.1:p.Pro2826Ser
XM_017013612.1:c.8479C>T	XP_016869101.1:p.Pro2827Ser
XM_017013613.1:c.8386C>T	XP_016869102.1:p.Pro2796Ser
NM_017780.4:c.8389C>T MANE Select	NP_060250.2:p.Pro2797Ser