Canonical Allele Identifier: CA371307880

Gene: CHD7

Linked Data

• ClinVar Variation Id: 644287
• ClinVar RCV Id: RCV000798167
• dbSNP Id: rs1586467380
• MyVariant Identifiers: chr8:g.61777738A>G (hg19) ; chr8:g.60865179A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865179A>G , CM000670.2:g.60865179A>G	GRCh38
NC_000008.10:g.61777738A>G , CM000670.1:g.61777738A>G	GRCh37
NC_000008.9:g.61940292A>G	NCBI36
NG_007009.1:g.191400A>G , LRG_176:g.191400A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1416A>G
ENST00000695852.1:n.347A>G
ENST00000695853.1:c.*1299A>G	ENSP00000512218.1:n.*1299A>G
ENST00000423902.7:c.8240A>G MANE Select	ENSP00000392028.1:p.Asn2747Ser
ENST00000423902.6:c.8240A>G	ENSP00000392028.1:p.Asn2747Ser
ENST00000524602.5:c.2093A>G	ENSP00000437061.1:p.Asn698Ser
ENST00000528280.1:n.286A>G
NM_001316690.1:c.2093A>G	NP_001303619.1:p.Asn698Ser
NM_017780.3:c.8240A>G	NP_060250.2:p.Asn2747Ser
XM_011517553.1:c.8330A>G	XP_011515855.1:p.Asn2777Ser
XM_011517554.1:c.8330A>G	XP_011515856.1:p.Asn2777Ser
XM_011517555.1:c.8327A>G	XP_011515857.1:p.Asn2776Ser
XM_011517556.1:c.8108A>G	XP_011515858.1:p.Asn2703Ser
XM_011517557.1:c.6317A>G	XP_011515859.1:p.Asn2106Ser
XM_011517558.1:c.5867A>G	XP_011515860.1:p.Asn1956Ser
XM_011517559.1:c.5075A>G	XP_011515861.1:p.Asn1692Ser
XM_011517553.2:c.8330A>G	XP_011515855.1:p.Asn2777Ser
XM_011517554.3:c.8330A>G	XP_011515856.1:p.Asn2777Ser
XM_011517555.2:c.8327A>G	XP_011515857.1:p.Asn2776Ser
XM_017013612.1:c.8330A>G	XP_016869101.1:p.Asn2777Ser
XM_017013613.1:c.8237A>G	XP_016869102.1:p.Asn2746Ser
NM_017780.4:c.8240A>G MANE Select	NP_060250.2:p.Asn2747Ser