Canonical Allele Identifier: CA4760505
Gene: CHD7 HGNC NCBI

Linked Data

dbSNP Id: rs765321307
gnomAD v2: 8-61765169-C-T
gnomAD v4: 8-60852610-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60852610C>T , CM000670.2:g.60852610C>T GRCh38
NC_000008.10:g.61765169C>T , CM000670.1:g.61765169C>T GRCh37
NC_000008.9:g.61927723C>T NCBI36
NG_007009.1:g.178831C>T , LRG_176:g.178831C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695853.1:c.6007C>T ENSP00000512218.1:p.Leu2003Phe
ENST00000423902.7:c.6007C>T MANE Select ENSP00000392028.1:p.Leu2003Phe
ENST00000423902.6:c.6007C>T ENSP00000392028.1:p.Leu2003Phe
ENST00000524602.5:c.1717-9619C>T ENSP00000437061.1:n.1717-9619C>T
ENST00000527921.1:n.498C>T
NM_001316690.1:c.1717-9619C>T NP_001303619.1:n.1717-9619C>T
NM_017780.3:c.6007C>T NP_060250.2:p.Leu2003Phe
XM_011517553.1:c.6097C>T XP_011515855.1:p.Leu2033Phe
XM_011517554.1:c.6097C>T XP_011515856.1:p.Leu2033Phe
XM_011517555.1:c.6097C>T XP_011515857.1:p.Leu2033Phe
XM_011517556.1:c.6097C>T XP_011515858.1:p.Leu2033Phe
XM_011517557.1:c.4084C>T XP_011515859.1:p.Leu1362Phe
XM_011517558.1:c.3634C>T XP_011515860.1:p.Leu1212Phe
XM_011517559.1:c.2842C>T XP_011515861.1:p.Leu948Phe
XM_011517553.2:c.6097C>T XP_011515855.1:p.Leu2033Phe
XM_011517554.3:c.6097C>T XP_011515856.1:p.Leu2033Phe
XM_011517555.2:c.6097C>T XP_011515857.1:p.Leu2033Phe
XM_017013612.1:c.6097C>T XP_016869101.1:p.Leu2033Phe
XM_017013613.1:c.6007C>T XP_016869102.1:p.Leu2003Phe
NM_017780.4:c.6007C>T MANE Select NP_060250.2:p.Leu2003Phe