Canonical Allele Identifier: CA271291
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 158285
ClinVar RCV Id: RCV000145660
dbSNP Id: rs587783434
MyVariant Identifiers: chr8:g.61734466G>T (hg19) chr8:g.60821907G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60821907G>T , CM000670.2:g.60821907G>T GRCh38
NC_000008.10:g.61734466G>T , CM000670.1:g.61734466G>T GRCh37
NC_000008.9:g.61897020G>T NCBI36
NG_007009.1:g.148128G>T , LRG_176:g.148128G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.2815G>T ENSP00000512218.1:p.Glu939Ter
ENST00000423902.7:c.2815G>T MANE Select ENSP00000392028.1:p.Glu939Ter
ENST00000423902.6:c.2815G>T ENSP00000392028.1:p.Glu939Ter
ENST00000524602.5:c.1717-40322G>T ENSP00000437061.1:n.1717-40322G>T
ENST00000525508.1:c.2815G>T ENSP00000436027.1:p.Glu939Ter
NM_001316690.1:c.1717-40322G>T NP_001303619.1:n.1717-40322G>T
NM_017780.3:c.2815G>T NP_060250.2:p.Glu939Ter
XM_011517553.1:c.2815G>T XP_011515855.1:p.Glu939Ter
XM_011517554.1:c.2815G>T XP_011515856.1:p.Glu939Ter
XM_011517555.1:c.2815G>T XP_011515857.1:p.Glu939Ter
XM_011517556.1:c.2815G>T XP_011515858.1:p.Glu939Ter
XM_011517557.1:c.802G>T XP_011515859.1:p.Glu268Ter
XM_011517558.1:c.352G>T XP_011515860.1:p.Glu118Ter
XM_011517560.1:c.2815G>T XP_011515862.1:p.Glu939Ter
XM_011517553.2:c.2815G>T XP_011515855.1:p.Glu939Ter
XM_011517554.3:c.2815G>T XP_011515856.1:p.Glu939Ter
XM_011517555.2:c.2815G>T XP_011515857.1:p.Glu939Ter
XM_011517560.2:c.2815G>T XP_011515862.1:p.Glu939Ter
XM_017013612.1:c.2815G>T XP_016869101.1:p.Glu939Ter
XM_017013613.1:c.2815G>T XP_016869102.1:p.Glu939Ter
NM_017780.4:c.2815G>T MANE Select NP_060250.2:p.Glu939Ter
Search 100 bp 5'
Search 100 bp 3'