Canonical Allele Identifier: CA4759550

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2152897
• ClinVar RCV Id: RCV003077333
• dbSNP Id: rs763024481
• ExAC: 8:61693567 G / C
• gnomAD v2: 8-61693567-G-C
• gnomAD v3: 8-60781008-G-C
• gnomAD v4: 8-60781008-G-C
• MyVariant Identifiers: chr8:g.61693567G>C (hg19) ; chr8:g.60781008G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60781008G>C , CM000670.2:g.60781008G>C	GRCh38
NC_000008.10:g.61693567G>C , CM000670.1:g.61693567G>C	GRCh37
NC_000008.9:g.61856121G>C	NCBI36
NG_007009.1:g.107229G>C , LRG_176:g.107229G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2187G>C
ENST00000695849.1:n.2187G>C
ENST00000695853.1:c.1674G>C	ENSP00000512218.1:p.Pro558=
ENST00000700671.1:c.1674G>C	ENSP00000515139.1:p.Pro558=
ENST00000423902.7:c.1674G>C MANE Select	ENSP00000392028.1:p.Pro558=
ENST00000423902.6:c.1674G>C	ENSP00000392028.1:p.Pro558=
ENST00000524602.5:c.1674G>C	ENSP00000437061.1:p.Pro558=
ENST00000525508.1:c.1674G>C	ENSP00000436027.1:p.Pro558=
ENST00000527825.1:c.318G>C
ENST00000527900.1:c.75G>C	ENSP00000433336.1:p.Pro25=
NM_001316690.1:c.1674G>C	NP_001303619.1:p.Pro558=
NM_017780.3:c.1674G>C	NP_060250.2:p.Pro558=
XM_011517553.1:c.1674G>C	XP_011515855.1:p.Pro558=
XM_011517554.1:c.1674G>C	XP_011515856.1:p.Pro558=
XM_011517555.1:c.1674G>C	XP_011515857.1:p.Pro558=
XM_011517556.1:c.1674G>C	XP_011515858.1:p.Pro558=
XM_011517560.1:c.1674G>C	XP_011515862.1:p.Pro558=
XM_011517553.2:c.1674G>C	XP_011515855.1:p.Pro558=
XM_011517554.3:c.1674G>C	XP_011515856.1:p.Pro558=
XM_011517555.2:c.1674G>C	XP_011515857.1:p.Pro558=
XM_011517560.2:c.1674G>C	XP_011515862.1:p.Pro558=
XM_017013612.1:c.1674G>C	XP_016869101.1:p.Pro558=
XM_017013613.1:c.1674G>C	XP_016869102.1:p.Pro558=
NM_017780.4:c.1674G>C MANE Select	NP_060250.2:p.Pro558=