Canonical Allele Identifier: CA371320511

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2129733
• ClinVar RCV Id: RCV003050148
• MyVariant Identifiers: chr8:g.61757894G>C (hg19) ; chr8:g.60845335G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60845335G>C , CM000670.2:g.60845335G>C	GRCh38
NC_000008.10:g.61757894G>C , CM000670.1:g.61757894G>C	GRCh37
NC_000008.9:g.61920448G>C	NCBI36
NG_007009.1:g.171556G>C , LRG_176:g.171556G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5136G>C	ENSP00000512218.1:p.Trp1712Cys
ENST00000423902.7:c.5136G>C MANE Select	ENSP00000392028.1:p.Trp1712Cys
ENST00000423902.6:c.5136G>C	ENSP00000392028.1:p.Trp1712Cys
ENST00000524602.5:c.1717-16894G>C	ENSP00000437061.1:n.1717-16894G>C
NM_001316690.1:c.1717-16894G>C	NP_001303619.1:n.1717-16894G>C
NM_017780.3:c.5136G>C	NP_060250.2:p.Trp1712Cys
XM_011517553.1:c.5136G>C	XP_011515855.1:p.Trp1712Cys
XM_011517554.1:c.5136G>C	XP_011515856.1:p.Trp1712Cys
XM_011517555.1:c.5136G>C	XP_011515857.1:p.Trp1712Cys
XM_011517556.1:c.5136G>C	XP_011515858.1:p.Trp1712Cys
XM_011517557.1:c.3123G>C	XP_011515859.1:p.Trp1041Cys
XM_011517558.1:c.2673G>C	XP_011515860.1:p.Trp891Cys
XM_011517559.1:c.1881G>C	XP_011515861.1:p.Trp627Cys
XM_011517553.2:c.5136G>C	XP_011515855.1:p.Trp1712Cys
XM_011517554.3:c.5136G>C	XP_011515856.1:p.Trp1712Cys
XM_011517555.2:c.5136G>C	XP_011515857.1:p.Trp1712Cys
XM_017013612.1:c.5136G>C	XP_016869101.1:p.Trp1712Cys
XM_017013613.1:c.5136G>C	XP_016869102.1:p.Trp1712Cys
NM_017780.4:c.5136G>C MANE Select	NP_060250.2:p.Trp1712Cys