Canonical Allele Identifier: CA371307809

Gene: CHD7

Linked Data

• dbSNP Id: rs1416636387
• gnomAD v4: 8-60865164-A-C
• MyVariant Identifiers: chr8:g.61777723A>C (hg19) ; chr8:g.60865164A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865164A>C , CM000670.2:g.60865164A>C	GRCh38
NC_000008.10:g.61777723A>C , CM000670.1:g.61777723A>C	GRCh37
NC_000008.9:g.61940277A>C	NCBI36
NG_007009.1:g.191385A>C , LRG_176:g.191385A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1401A>C
ENST00000695852.1:n.332A>C
ENST00000695853.1:c.*1284A>C	ENSP00000512218.1:n.*1284A>C
ENST00000423902.7:c.8225A>C MANE Select	ENSP00000392028.1:p.Asn2742Thr
ENST00000423902.6:c.8225A>C	ENSP00000392028.1:p.Asn2742Thr
ENST00000524602.5:c.2078A>C	ENSP00000437061.1:p.Asn693Thr
ENST00000528280.1:n.271A>C
NM_001316690.1:c.2078A>C	NP_001303619.1:p.Asn693Thr
NM_017780.3:c.8225A>C	NP_060250.2:p.Asn2742Thr
XM_011517553.1:c.8315A>C	XP_011515855.1:p.Asn2772Thr
XM_011517554.1:c.8315A>C	XP_011515856.1:p.Asn2772Thr
XM_011517555.1:c.8312A>C	XP_011515857.1:p.Asn2771Thr
XM_011517556.1:c.8093A>C	XP_011515858.1:p.Asn2698Thr
XM_011517557.1:c.6302A>C	XP_011515859.1:p.Asn2101Thr
XM_011517558.1:c.5852A>C	XP_011515860.1:p.Asn1951Thr
XM_011517559.1:c.5060A>C	XP_011515861.1:p.Asn1687Thr
XM_011517553.2:c.8315A>C	XP_011515855.1:p.Asn2772Thr
XM_011517554.3:c.8315A>C	XP_011515856.1:p.Asn2772Thr
XM_011517555.2:c.8312A>C	XP_011515857.1:p.Asn2771Thr
XM_017013612.1:c.8315A>C	XP_016869101.1:p.Asn2772Thr
XM_017013613.1:c.8222A>C	XP_016869102.1:p.Asn2741Thr
NM_017780.4:c.8225A>C MANE Select	NP_060250.2:p.Asn2742Thr