Canonical Allele Identifier: CA461105823

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777715A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865156A>C , CM000670.2:g.60865156A>C	GRCh38
NC_000008.10:g.61777715A>C , CM000670.1:g.61777715A>C	GRCh37
NC_000008.9:g.61940269A>C	NCBI36
NG_007009.1:g.191377A>C , LRG_176:g.191377A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1393A>C
ENST00000695852.1:n.324A>C
ENST00000695853.1:c.*1276A>C	ENSP00000512218.1:n.*1276A>C
ENST00000423902.7:c.8217A>C MANE Select	ENSP00000392028.1:p.Ser2739=
ENST00000423902.6:c.8217A>C	ENSP00000392028.1:p.Ser2739=
ENST00000524602.5:c.2070A>C	ENSP00000437061.1:p.Ser690=
ENST00000528280.1:n.263A>C
NM_001316690.1:c.2070A>C	NP_001303619.1:p.Ser690=
NM_017780.3:c.8217A>C	NP_060250.2:p.Ser2739=
XM_011517553.1:c.8307A>C	XP_011515855.1:p.Ser2769=
XM_011517554.1:c.8307A>C	XP_011515856.1:p.Ser2769=
XM_011517555.1:c.8304A>C	XP_011515857.1:p.Ser2768=
XM_011517556.1:c.8085A>C	XP_011515858.1:p.Ser2695=
XM_011517557.1:c.6294A>C	XP_011515859.1:p.Ser2098=
XM_011517558.1:c.5844A>C	XP_011515860.1:p.Ser1948=
XM_011517559.1:c.5052A>C	XP_011515861.1:p.Ser1684=
XM_011517553.2:c.8307A>C	XP_011515855.1:p.Ser2769=
XM_011517554.3:c.8307A>C	XP_011515856.1:p.Ser2769=
XM_011517555.2:c.8304A>C	XP_011515857.1:p.Ser2768=
XM_017013612.1:c.8307A>C	XP_016869101.1:p.Ser2769=
XM_017013613.1:c.8214A>C	XP_016869102.1:p.Ser2738=
NM_017780.4:c.8217A>C MANE Select	NP_060250.2:p.Ser2739=