Canonical Allele Identifier: CA461105821

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777796G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865237G>C , CM000670.2:g.60865237G>C	GRCh38
NC_000008.10:g.61777796G>C , CM000670.1:g.61777796G>C	GRCh37
NC_000008.9:g.61940350G>C	NCBI36
NG_007009.1:g.191458G>C , LRG_176:g.191458G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1474G>C
ENST00000695852.1:n.405G>C
ENST00000695853.1:c.*1357G>C	ENSP00000512218.1:n.*1357G>C
ENST00000423902.7:c.8298G>C MANE Select	ENSP00000392028.1:p.Ser2766=
ENST00000423902.6:c.8298G>C	ENSP00000392028.1:p.Ser2766=
ENST00000524602.5:c.2151G>C	ENSP00000437061.1:p.Ser717=
ENST00000528280.1:n.344G>C
NM_001316690.1:c.2151G>C	NP_001303619.1:p.Ser717=
NM_017780.3:c.8298G>C	NP_060250.2:p.Ser2766=
XM_011517553.1:c.8388G>C	XP_011515855.1:p.Ser2796=
XM_011517554.1:c.8388G>C	XP_011515856.1:p.Ser2796=
XM_011517555.1:c.8385G>C	XP_011515857.1:p.Ser2795=
XM_011517556.1:c.8166G>C	XP_011515858.1:p.Ser2722=
XM_011517557.1:c.6375G>C	XP_011515859.1:p.Ser2125=
XM_011517558.1:c.5925G>C	XP_011515860.1:p.Ser1975=
XM_011517559.1:c.5133G>C	XP_011515861.1:p.Ser1711=
XM_011517553.2:c.8388G>C	XP_011515855.1:p.Ser2796=
XM_011517554.3:c.8388G>C	XP_011515856.1:p.Ser2796=
XM_011517555.2:c.8385G>C	XP_011515857.1:p.Ser2795=
XM_017013612.1:c.8388G>C	XP_016869101.1:p.Ser2796=
XM_017013613.1:c.8295G>C	XP_016869102.1:p.Ser2765=
NM_017780.4:c.8298G>C MANE Select	NP_060250.2:p.Ser2766=