Canonical Allele Identifier: CA460848468
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3008091
ClinVar RCV Id: RCV003866754
gnomAD v4: 8-60849129-C-T
MyVariant Identifiers: chr8:g.61761688C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60849129C>T , CM000670.2:g.60849129C>T GRCh38
NC_000008.10:g.61761688C>T , CM000670.1:g.61761688C>T GRCh37
NC_000008.9:g.61924242C>T NCBI36
NG_007009.1:g.175350C>T , LRG_176:g.175350C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695853.1:c.5379C>T ENSP00000512218.1:p.Ser1793=
ENST00000423902.7:c.5379C>T MANE Select ENSP00000392028.1:p.Ser1793=
ENST00000423902.6:c.5379C>T ENSP00000392028.1:p.Ser1793=
ENST00000524602.5:c.1717-13100C>T ENSP00000437061.1:n.1717-13100C>T
NM_001316690.1:c.1717-13100C>T NP_001303619.1:n.1717-13100C>T
NM_017780.3:c.5379C>T NP_060250.2:p.Ser1793=
XM_011517553.1:c.5469C>T XP_011515855.1:p.Ser1823=
XM_011517554.1:c.5469C>T XP_011515856.1:p.Ser1823=
XM_011517555.1:c.5469C>T XP_011515857.1:p.Ser1823=
XM_011517556.1:c.5469C>T XP_011515858.1:p.Ser1823=
XM_011517557.1:c.3456C>T XP_011515859.1:p.Ser1152=
XM_011517558.1:c.3006C>T XP_011515860.1:p.Ser1002=
XM_011517559.1:c.2214C>T XP_011515861.1:p.Ser738=
XM_011517553.2:c.5469C>T XP_011515855.1:p.Ser1823=
XM_011517554.3:c.5469C>T XP_011515856.1:p.Ser1823=
XM_011517555.2:c.5469C>T XP_011515857.1:p.Ser1823=
XM_017013612.1:c.5469C>T XP_016869101.1:p.Ser1823=
XM_017013613.1:c.5379C>T XP_016869102.1:p.Ser1793=
NM_017780.4:c.5379C>T MANE Select NP_060250.2:p.Ser1793=