Canonical Allele Identifier: CA371307815

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777724C>A (hg19) ; chr8:g.60865165C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865165C>A , CM000670.2:g.60865165C>A	GRCh38
NC_000008.10:g.61777724C>A , CM000670.1:g.61777724C>A	GRCh37
NC_000008.9:g.61940278C>A	NCBI36
NG_007009.1:g.191386C>A , LRG_176:g.191386C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1402C>A
ENST00000695852.1:n.333C>A
ENST00000695853.1:c.*1285C>A	ENSP00000512218.1:n.*1285C>A
ENST00000423902.7:c.8226C>A MANE Select	ENSP00000392028.1:p.Asn2742Lys
ENST00000423902.6:c.8226C>A	ENSP00000392028.1:p.Asn2742Lys
ENST00000524602.5:c.2079C>A	ENSP00000437061.1:p.Asn693Lys
ENST00000528280.1:n.272C>A
NM_001316690.1:c.2079C>A	NP_001303619.1:p.Asn693Lys
NM_017780.3:c.8226C>A	NP_060250.2:p.Asn2742Lys
XM_011517553.1:c.8316C>A	XP_011515855.1:p.Asn2772Lys
XM_011517554.1:c.8316C>A	XP_011515856.1:p.Asn2772Lys
XM_011517555.1:c.8313C>A	XP_011515857.1:p.Asn2771Lys
XM_011517556.1:c.8094C>A	XP_011515858.1:p.Asn2698Lys
XM_011517557.1:c.6303C>A	XP_011515859.1:p.Asn2101Lys
XM_011517558.1:c.5853C>A	XP_011515860.1:p.Asn1951Lys
XM_011517559.1:c.5061C>A	XP_011515861.1:p.Asn1687Lys
XM_011517553.2:c.8316C>A	XP_011515855.1:p.Asn2772Lys
XM_011517554.3:c.8316C>A	XP_011515856.1:p.Asn2772Lys
XM_011517555.2:c.8313C>A	XP_011515857.1:p.Asn2771Lys
XM_017013612.1:c.8316C>A	XP_016869101.1:p.Asn2772Lys
XM_017013613.1:c.8223C>A	XP_016869102.1:p.Asn2741Lys
NM_017780.4:c.8226C>A MANE Select	NP_060250.2:p.Asn2742Lys