Canonical Allele Identifier: CA460846558

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773630T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861071T>C , CM000670.2:g.60861071T>C	GRCh38
NC_000008.10:g.61773630T>C , CM000670.1:g.61773630T>C	GRCh37
NC_000008.9:g.61936184T>C	NCBI36
NG_007009.1:g.187292T>C , LRG_176:g.187292T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.952T>C
ENST00000695851.1:n.156T>C
ENST00000695853.1:c.*835T>C	ENSP00000512218.1:n.*835T>C
ENST00000423902.7:c.7776T>C MANE Select	ENSP00000392028.1:p.Val2592=
ENST00000423902.6:c.7776T>C	ENSP00000392028.1:p.Val2592=
ENST00000524602.5:c.1717-1158T>C	ENSP00000437061.1:n.1717-1158T>C
ENST00000531695.1:n.200T>C
ENST00000618450.1:n.168T>C
NM_001316690.1:c.1717-1158T>C	NP_001303619.1:n.1717-1158T>C
NM_017780.3:c.7776T>C	NP_060250.2:p.Val2592=
XM_011517553.1:c.7866T>C	XP_011515855.1:p.Val2622=
XM_011517554.1:c.7866T>C	XP_011515856.1:p.Val2622=
XM_011517555.1:c.7863T>C	XP_011515857.1:p.Val2621=
XM_011517556.1:c.7699-1125T>C	XP_011515858.1:n.7699-1125T>C
XM_011517557.1:c.5853T>C	XP_011515859.1:p.Val1951=
XM_011517558.1:c.5403T>C	XP_011515860.1:p.Val1801=
XM_011517559.1:c.4611T>C	XP_011515861.1:p.Val1537=
XM_011517553.2:c.7866T>C	XP_011515855.1:p.Val2622=
XM_011517554.3:c.7866T>C	XP_011515856.1:p.Val2622=
XM_011517555.2:c.7863T>C	XP_011515857.1:p.Val2621=
XM_017013612.1:c.7866T>C	XP_016869101.1:p.Val2622=
XM_017013613.1:c.7773T>C	XP_016869102.1:p.Val2591=
NM_017780.4:c.7776T>C MANE Select	NP_060250.2:p.Val2592=