Canonical Allele Identifier: CA371307594

Gene: CHD7

Linked Data

• ClinVar Variation Id: 930307
• ClinVar RCV Id: RCV001195867
• dbSNP Id: rs757725468
• MyVariant Identifiers: chr8:g.61777680G>T (hg19) ; chr8:g.60865121G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865121G>T , CM000670.2:g.60865121G>T	GRCh38
NC_000008.10:g.61777680G>T , CM000670.1:g.61777680G>T	GRCh37
NC_000008.9:g.61940234G>T	NCBI36
NG_007009.1:g.191342G>T , LRG_176:g.191342G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1358G>T
ENST00000695852.1:n.289G>T
ENST00000695853.1:c.*1241G>T	ENSP00000512218.1:n.*1241G>T
ENST00000423902.7:c.8182G>T MANE Select	ENSP00000392028.1:p.Ala2728Ser
ENST00000423902.6:c.8182G>T	ENSP00000392028.1:p.Ala2728Ser
ENST00000524602.5:c.2035G>T	ENSP00000437061.1:p.Ala679Ser
ENST00000528280.1:n.228G>T
ENST00000532149.1:n.604G>T
ENST00000618450.1:n.4218G>T
NM_001316690.1:c.2035G>T	NP_001303619.1:p.Ala679Ser
NM_017780.3:c.8182G>T	NP_060250.2:p.Ala2728Ser
XM_011517553.1:c.8272G>T	XP_011515855.1:p.Ala2758Ser
XM_011517554.1:c.8272G>T	XP_011515856.1:p.Ala2758Ser
XM_011517555.1:c.8269G>T	XP_011515857.1:p.Ala2757Ser
XM_011517556.1:c.8050G>T	XP_011515858.1:p.Ala2684Ser
XM_011517557.1:c.6259G>T	XP_011515859.1:p.Ala2087Ser
XM_011517558.1:c.5809G>T	XP_011515860.1:p.Ala1937Ser
XM_011517559.1:c.5017G>T	XP_011515861.1:p.Ala1673Ser
XM_011517553.2:c.8272G>T	XP_011515855.1:p.Ala2758Ser
XM_011517554.3:c.8272G>T	XP_011515856.1:p.Ala2758Ser
XM_011517555.2:c.8269G>T	XP_011515857.1:p.Ala2757Ser
XM_017013612.1:c.8272G>T	XP_016869101.1:p.Ala2758Ser
XM_017013613.1:c.8179G>T	XP_016869102.1:p.Ala2727Ser
NM_017780.4:c.8182G>T MANE Select	NP_060250.2:p.Ala2728Ser