Canonical Allele Identifier: CA371321170
Gene: CHD7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.61761663G>A (hg19) chr8:g.60849104G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60849104G>A , CM000670.2:g.60849104G>A GRCh38
NC_000008.10:g.61761663G>A , CM000670.1:g.61761663G>A GRCh37
NC_000008.9:g.61924217G>A NCBI36
NG_007009.1:g.175325G>A , LRG_176:g.175325G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.5354G>A ENSP00000512218.1:p.Trp1785Ter
ENST00000423902.7:c.5354G>A MANE Select ENSP00000392028.1:p.Trp1785Ter
ENST00000423902.6:c.5354G>A ENSP00000392028.1:p.Trp1785Ter
ENST00000524602.5:c.1717-13125G>A ENSP00000437061.1:n.1717-13125G>A
NM_001316690.1:c.1717-13125G>A NP_001303619.1:n.1717-13125G>A
NM_017780.3:c.5354G>A NP_060250.2:p.Trp1785Ter
XM_011517553.1:c.5444G>A XP_011515855.1:p.Trp1815Ter
XM_011517554.1:c.5444G>A XP_011515856.1:p.Trp1815Ter
XM_011517555.1:c.5444G>A XP_011515857.1:p.Trp1815Ter
XM_011517556.1:c.5444G>A XP_011515858.1:p.Trp1815Ter
XM_011517557.1:c.3431G>A XP_011515859.1:p.Trp1144Ter
XM_011517558.1:c.2981G>A XP_011515860.1:p.Trp994Ter
XM_011517559.1:c.2189G>A XP_011515861.1:p.Trp730Ter
XM_011517553.2:c.5444G>A XP_011515855.1:p.Trp1815Ter
XM_011517554.3:c.5444G>A XP_011515856.1:p.Trp1815Ter
XM_011517555.2:c.5444G>A XP_011515857.1:p.Trp1815Ter
XM_017013612.1:c.5444G>A XP_016869101.1:p.Trp1815Ter
XM_017013613.1:c.5354G>A XP_016869102.1:p.Trp1785Ter
NM_017780.4:c.5354G>A MANE Select NP_060250.2:p.Trp1785Ter
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