Canonical Allele Identifier: CA371307806

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777722A>G (hg19) ; chr8:g.60865163A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865163A>G , CM000670.2:g.60865163A>G	GRCh38
NC_000008.10:g.61777722A>G , CM000670.1:g.61777722A>G	GRCh37
NC_000008.9:g.61940276A>G	NCBI36
NG_007009.1:g.191384A>G , LRG_176:g.191384A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1400A>G
ENST00000695852.1:n.331A>G
ENST00000695853.1:c.*1283A>G	ENSP00000512218.1:n.*1283A>G
ENST00000423902.7:c.8224A>G MANE Select	ENSP00000392028.1:p.Asn2742Asp
ENST00000423902.6:c.8224A>G	ENSP00000392028.1:p.Asn2742Asp
ENST00000524602.5:c.2077A>G	ENSP00000437061.1:p.Asn693Asp
ENST00000528280.1:n.270A>G
NM_001316690.1:c.2077A>G	NP_001303619.1:p.Asn693Asp
NM_017780.3:c.8224A>G	NP_060250.2:p.Asn2742Asp
XM_011517553.1:c.8314A>G	XP_011515855.1:p.Asn2772Asp
XM_011517554.1:c.8314A>G	XP_011515856.1:p.Asn2772Asp
XM_011517555.1:c.8311A>G	XP_011515857.1:p.Asn2771Asp
XM_011517556.1:c.8092A>G	XP_011515858.1:p.Asn2698Asp
XM_011517557.1:c.6301A>G	XP_011515859.1:p.Asn2101Asp
XM_011517558.1:c.5851A>G	XP_011515860.1:p.Asn1951Asp
XM_011517559.1:c.5059A>G	XP_011515861.1:p.Asn1687Asp
XM_011517553.2:c.8314A>G	XP_011515855.1:p.Asn2772Asp
XM_011517554.3:c.8314A>G	XP_011515856.1:p.Asn2772Asp
XM_011517555.2:c.8311A>G	XP_011515857.1:p.Asn2771Asp
XM_017013612.1:c.8314A>G	XP_016869101.1:p.Asn2772Asp
XM_017013613.1:c.8221A>G	XP_016869102.1:p.Asn2741Asp
NM_017780.4:c.8224A>G MANE Select	NP_060250.2:p.Asn2742Asp