Canonical Allele Identifier: CA130114
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2033
dbSNP Id: rs121434344

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60816389C>T , CM000670.2:g.60816389C>T GRCh38
NC_000008.10:g.61728948C>T , CM000670.1:g.61728948C>T GRCh37
NC_000008.9:g.61891502C>T NCBI36
NG_007009.1:g.142610C>T , LRG_176:g.142610C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.2501C>T ENSP00000512218.1:p.Ser834Phe
ENST00000423902.7:c.2501C>T MANE Select ENSP00000392028.1:p.Ser834Phe
ENST00000423902.6:c.2501C>T ENSP00000392028.1:p.Ser834Phe
ENST00000524602.5:c.1716+35339C>T ENSP00000437061.1:n.1716+35339C>T
ENST00000525508.1:c.2501C>T ENSP00000436027.1:p.Ser834Phe
NM_001316690.1:c.1716+35339C>T NP_001303619.1:n.1716+35339C>T
NM_017780.3:c.2501C>T NP_060250.2:p.Ser834Phe
XM_011517553.1:c.2501C>T XP_011515855.1:p.Ser834Phe
XM_011517554.1:c.2501C>T XP_011515856.1:p.Ser834Phe
XM_011517555.1:c.2501C>T XP_011515857.1:p.Ser834Phe
XM_011517556.1:c.2501C>T XP_011515858.1:p.Ser834Phe
XM_011517557.1:c.488C>T XP_011515859.1:p.Ser163Phe
XM_011517558.1:c.38C>T XP_011515860.1:p.Ser13Phe
XM_011517560.1:c.2501C>T XP_011515862.1:p.Ser834Phe
XM_011517553.2:c.2501C>T XP_011515855.1:p.Ser834Phe
XM_011517554.3:c.2501C>T XP_011515856.1:p.Ser834Phe
XM_011517555.2:c.2501C>T XP_011515857.1:p.Ser834Phe
XM_011517560.2:c.2501C>T XP_011515862.1:p.Ser834Phe
XM_017013612.1:c.2501C>T XP_016869101.1:p.Ser834Phe
XM_017013613.1:c.2501C>T XP_016869102.1:p.Ser834Phe
NM_017780.4:c.2501C>T MANE Select NP_060250.2:p.Ser834Phe