Canonical Allele Identifier: CA461105819
Gene: CHD7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.61777712G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60865153G>T , CM000670.2:g.60865153G>T GRCh38
NC_000008.10:g.61777712G>T , CM000670.1:g.61777712G>T GRCh37
NC_000008.9:g.61940266G>T NCBI36
NG_007009.1:g.191374G>T , LRG_176:g.191374G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695850.1:n.1390G>T
ENST00000695852.1:n.321G>T
ENST00000695853.1:c.*1273G>T ENSP00000512218.1:n.*1273G>T
ENST00000423902.7:c.8214G>T MANE Select ENSP00000392028.1:p.Thr2738=
ENST00000423902.6:c.8214G>T ENSP00000392028.1:p.Thr2738=
ENST00000524602.5:c.2067G>T ENSP00000437061.1:p.Thr689=
ENST00000528280.1:n.260G>T
NM_001316690.1:c.2067G>T NP_001303619.1:p.Thr689=
NM_017780.3:c.8214G>T NP_060250.2:p.Thr2738=
XM_011517553.1:c.8304G>T XP_011515855.1:p.Thr2768=
XM_011517554.1:c.8304G>T XP_011515856.1:p.Thr2768=
XM_011517555.1:c.8301G>T XP_011515857.1:p.Thr2767=
XM_011517556.1:c.8082G>T XP_011515858.1:p.Thr2694=
XM_011517557.1:c.6291G>T XP_011515859.1:p.Thr2097=
XM_011517558.1:c.5841G>T XP_011515860.1:p.Thr1947=
XM_011517559.1:c.5049G>T XP_011515861.1:p.Thr1683=
XM_011517553.2:c.8304G>T XP_011515855.1:p.Thr2768=
XM_011517554.3:c.8304G>T XP_011515856.1:p.Thr2768=
XM_011517555.2:c.8301G>T XP_011515857.1:p.Thr2767=
XM_017013612.1:c.8304G>T XP_016869101.1:p.Thr2768=
XM_017013613.1:c.8211G>T XP_016869102.1:p.Thr2737=
NM_017780.4:c.8214G>T MANE Select NP_060250.2:p.Thr2738=