Canonical Allele Identifier: CA4760970

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2136122
• ClinVar RCV Id: RCV003037014 ; RCV003603130
• dbSNP Id: rs772957679
• ExAC: 8:61777722 A / C
• gnomAD v2: 8-61777722-A-C
• gnomAD v4: 8-60865163-A-C
• MyVariant Identifiers: chr8:g.61777722A>C (hg19) ; chr8:g.60865163A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865163A>C , CM000670.2:g.60865163A>C	GRCh38
NC_000008.10:g.61777722A>C , CM000670.1:g.61777722A>C	GRCh37
NC_000008.9:g.61940276A>C	NCBI36
NG_007009.1:g.191384A>C , LRG_176:g.191384A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1400A>C
ENST00000695852.1:n.331A>C
ENST00000695853.1:c.*1283A>C	ENSP00000512218.1:n.*1283A>C
ENST00000423902.7:c.8224A>C MANE Select	ENSP00000392028.1:p.Asn2742His
ENST00000423902.6:c.8224A>C	ENSP00000392028.1:p.Asn2742His
ENST00000524602.5:c.2077A>C	ENSP00000437061.1:p.Asn693His
ENST00000528280.1:n.270A>C
NM_001316690.1:c.2077A>C	NP_001303619.1:p.Asn693His
NM_017780.3:c.8224A>C	NP_060250.2:p.Asn2742His
XM_011517553.1:c.8314A>C	XP_011515855.1:p.Asn2772His
XM_011517554.1:c.8314A>C	XP_011515856.1:p.Asn2772His
XM_011517555.1:c.8311A>C	XP_011515857.1:p.Asn2771His
XM_011517556.1:c.8092A>C	XP_011515858.1:p.Asn2698His
XM_011517557.1:c.6301A>C	XP_011515859.1:p.Asn2101His
XM_011517558.1:c.5851A>C	XP_011515860.1:p.Asn1951His
XM_011517559.1:c.5059A>C	XP_011515861.1:p.Asn1687His
XM_011517553.2:c.8314A>C	XP_011515855.1:p.Asn2772His
XM_011517554.3:c.8314A>C	XP_011515856.1:p.Asn2772His
XM_011517555.2:c.8311A>C	XP_011515857.1:p.Asn2771His
XM_017013612.1:c.8314A>C	XP_016869101.1:p.Asn2772His
XM_017013613.1:c.8221A>C	XP_016869102.1:p.Asn2741His
NM_017780.4:c.8224A>C MANE Select	NP_060250.2:p.Asn2742His