Canonical Allele Identifier: CA4760964

Gene: CHD7

Linked Data

• dbSNP Id: rs371898908
• ExAC: 8:61777688 G / T
• gnomAD v2: 8-61777688-G-T
• gnomAD v4: 8-60865129-G-T
• MyVariant Identifiers: chr8:g.61777688G>T (hg19) ; chr8:g.60865129G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865129G>T , CM000670.2:g.60865129G>T	GRCh38
NC_000008.10:g.61777688G>T , CM000670.1:g.61777688G>T	GRCh37
NC_000008.9:g.61940242G>T	NCBI36
NG_007009.1:g.191350G>T , LRG_176:g.191350G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1366G>T
ENST00000695852.1:n.297G>T
ENST00000695853.1:c.*1249G>T	ENSP00000512218.1:n.*1249G>T
ENST00000423902.7:c.8190G>T MANE Select	ENSP00000392028.1:p.Ala2730=
ENST00000423902.6:c.8190G>T	ENSP00000392028.1:p.Ala2730=
ENST00000524602.5:c.2043G>T	ENSP00000437061.1:p.Ala681=
ENST00000528280.1:n.236G>T
ENST00000532149.1:n.612G>T
NM_001316690.1:c.2043G>T	NP_001303619.1:p.Ala681=
NM_017780.3:c.8190G>T	NP_060250.2:p.Ala2730=
XM_011517553.1:c.8280G>T	XP_011515855.1:p.Ala2760=
XM_011517554.1:c.8280G>T	XP_011515856.1:p.Ala2760=
XM_011517555.1:c.8277G>T	XP_011515857.1:p.Ala2759=
XM_011517556.1:c.8058G>T	XP_011515858.1:p.Ala2686=
XM_011517557.1:c.6267G>T	XP_011515859.1:p.Ala2089=
XM_011517558.1:c.5817G>T	XP_011515860.1:p.Ala1939=
XM_011517559.1:c.5025G>T	XP_011515861.1:p.Ala1675=
XM_011517553.2:c.8280G>T	XP_011515855.1:p.Ala2760=
XM_011517554.3:c.8280G>T	XP_011515856.1:p.Ala2760=
XM_011517555.2:c.8277G>T	XP_011515857.1:p.Ala2759=
XM_017013612.1:c.8280G>T	XP_016869101.1:p.Ala2760=
XM_017013613.1:c.8187G>T	XP_016869102.1:p.Ala2729=
NM_017780.4:c.8190G>T MANE Select	NP_060250.2:p.Ala2730=