Canonical Allele Identifier: CA16605250
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 379722
ClinVar RCV Id: RCV000438702
dbSNP Id: rs1057520712

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60852900G>T , CM000670.2:g.60852900G>T GRCh38
NC_000008.10:g.61765459G>T , CM000670.1:g.61765459G>T GRCh37
NC_000008.9:g.61928013G>T NCBI36
NG_007009.1:g.179121G>T , LRG_176:g.179121G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.6175G>T ENSP00000512218.1:p.Glu2059Ter
ENST00000423902.7:c.6175G>T MANE Select ENSP00000392028.1:p.Glu2059Ter
ENST00000423902.6:c.6175G>T ENSP00000392028.1:p.Glu2059Ter
ENST00000524602.5:c.1717-9329G>T ENSP00000437061.1:n.1717-9329G>T
NM_001316690.1:c.1717-9329G>T NP_001303619.1:n.1717-9329G>T
NM_017780.3:c.6175G>T NP_060250.2:p.Glu2059Ter
XM_011517553.1:c.6265G>T XP_011515855.1:p.Glu2089Ter
XM_011517554.1:c.6265G>T XP_011515856.1:p.Glu2089Ter
XM_011517555.1:c.6265G>T XP_011515857.1:p.Glu2089Ter
XM_011517556.1:c.6265G>T XP_011515858.1:p.Glu2089Ter
XM_011517557.1:c.4252G>T XP_011515859.1:p.Glu1418Ter
XM_011517558.1:c.3802G>T XP_011515860.1:p.Glu1268Ter
XM_011517559.1:c.3010G>T XP_011515861.1:p.Glu1004Ter
XM_011517553.2:c.6265G>T XP_011515855.1:p.Glu2089Ter
XM_011517554.3:c.6265G>T XP_011515856.1:p.Glu2089Ter
XM_011517555.2:c.6265G>T XP_011515857.1:p.Glu2089Ter
XM_017013612.1:c.6265G>T XP_016869101.1:p.Glu2089Ter
XM_017013613.1:c.6175G>T XP_016869102.1:p.Glu2059Ter
NM_017780.4:c.6175G>T MANE Select NP_060250.2:p.Glu2059Ter