Canonical Allele Identifier: CA148853
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 95778
dbSNP Id: rs16926453
gnomAD v2: 8-61654207-T-C
gnomAD v3: 8-60741648-T-C
gnomAD v4: 8-60741648-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60741648T>C , CM000670.2:g.60741648T>C GRCh38
NC_000008.10:g.61654207T>C , CM000670.1:g.61654207T>C GRCh37
NC_000008.9:g.61816761T>C NCBI36
NG_007009.1:g.67869T>C , LRG_176:g.67869T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000695848.1:n.729T>C
ENST00000695849.1:n.729T>C
ENST00000695853.1:c.216T>C ENSP00000512218.1:p.Tyr72=
ENST00000700671.1:c.216T>C ENSP00000515139.1:p.Tyr72=
ENST00000423902.7:c.216T>C MANE Select ENSP00000392028.1:p.Tyr72=
ENST00000423902.6:c.216T>C ENSP00000392028.1:p.Tyr72=
ENST00000524602.5:c.216T>C ENSP00000437061.1:p.Tyr72=
ENST00000525508.1:c.216T>C ENSP00000436027.1:p.Tyr72=
NM_001316690.1:c.216T>C NP_001303619.1:p.Tyr72=
NM_017780.3:c.216T>C NP_060250.2:p.Tyr72=
XM_011517553.1:c.216T>C XP_011515855.1:p.Tyr72=
XM_011517554.1:c.216T>C XP_011515856.1:p.Tyr72=
XM_011517555.1:c.216T>C XP_011515857.1:p.Tyr72=
XM_011517556.1:c.216T>C XP_011515858.1:p.Tyr72=
XM_011517560.1:c.216T>C XP_011515862.1:p.Tyr72=
XM_011517553.2:c.216T>C XP_011515855.1:p.Tyr72=
XM_011517554.3:c.216T>C XP_011515856.1:p.Tyr72=
XM_011517555.2:c.216T>C XP_011515857.1:p.Tyr72=
XM_011517560.2:c.216T>C XP_011515862.1:p.Tyr72=
XM_017013612.1:c.216T>C XP_016869101.1:p.Tyr72=
XM_017013613.1:c.216T>C XP_016869102.1:p.Tyr72=
NM_017780.4:c.216T>C MANE Select NP_060250.2:p.Tyr72=