Canonical Allele Identifier: CA371309267

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777926T>C (hg19) ; chr8:g.60865367T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865367T>C , CM000670.2:g.60865367T>C	GRCh38
NC_000008.10:g.61777926T>C , CM000670.1:g.61777926T>C	GRCh37
NC_000008.9:g.61940480T>C	NCBI36
NG_007009.1:g.191588T>C , LRG_176:g.191588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1604T>C
ENST00000695852.1:n.535T>C
ENST00000695853.1:c.*1487T>C	ENSP00000512218.1:n.*1487T>C
ENST00000423902.7:c.8428T>C MANE Select	ENSP00000392028.1:p.Phe2810Leu
ENST00000423902.6:c.8428T>C	ENSP00000392028.1:p.Phe2810Leu
ENST00000524602.5:c.2281T>C	ENSP00000437061.1:p.Phe761Leu
ENST00000528280.1:n.474T>C
NM_001316690.1:c.2281T>C	NP_001303619.1:p.Phe761Leu
NM_017780.3:c.8428T>C	NP_060250.2:p.Phe2810Leu
XM_011517553.1:c.8518T>C	XP_011515855.1:p.Phe2840Leu
XM_011517554.1:c.8518T>C	XP_011515856.1:p.Phe2840Leu
XM_011517555.1:c.8515T>C	XP_011515857.1:p.Phe2839Leu
XM_011517556.1:c.8296T>C	XP_011515858.1:p.Phe2766Leu
XM_011517557.1:c.6505T>C	XP_011515859.1:p.Phe2169Leu
XM_011517558.1:c.6055T>C	XP_011515860.1:p.Phe2019Leu
XM_011517559.1:c.5263T>C	XP_011515861.1:p.Phe1755Leu
XM_011517553.2:c.8518T>C	XP_011515855.1:p.Phe2840Leu
XM_011517554.3:c.8518T>C	XP_011515856.1:p.Phe2840Leu
XM_011517555.2:c.8515T>C	XP_011515857.1:p.Phe2839Leu
XM_017013612.1:c.8518T>C	XP_016869101.1:p.Phe2840Leu
XM_017013613.1:c.8425T>C	XP_016869102.1:p.Phe2809Leu
NM_017780.4:c.8428T>C MANE Select	NP_060250.2:p.Phe2810Leu