Canonical Allele Identifier: CA371307604

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777681C>T (hg19) ; chr8:g.60865122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865122C>T , CM000670.2:g.60865122C>T	GRCh38
NC_000008.10:g.61777681C>T , CM000670.1:g.61777681C>T	GRCh37
NC_000008.9:g.61940235C>T	NCBI36
NG_007009.1:g.191343C>T , LRG_176:g.191343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1359C>T
ENST00000695852.1:n.290C>T
ENST00000695853.1:c.*1242C>T	ENSP00000512218.1:n.*1242C>T
ENST00000423902.7:c.8183C>T MANE Select	ENSP00000392028.1:p.Ala2728Val
ENST00000423902.6:c.8183C>T	ENSP00000392028.1:p.Ala2728Val
ENST00000524602.5:c.2036C>T	ENSP00000437061.1:p.Ala679Val
ENST00000528280.1:n.229C>T
ENST00000532149.1:n.605C>T
ENST00000618450.1:n.4219C>T
NM_001316690.1:c.2036C>T	NP_001303619.1:p.Ala679Val
NM_017780.3:c.8183C>T	NP_060250.2:p.Ala2728Val
XM_011517553.1:c.8273C>T	XP_011515855.1:p.Ala2758Val
XM_011517554.1:c.8273C>T	XP_011515856.1:p.Ala2758Val
XM_011517555.1:c.8270C>T	XP_011515857.1:p.Ala2757Val
XM_011517556.1:c.8051C>T	XP_011515858.1:p.Ala2684Val
XM_011517557.1:c.6260C>T	XP_011515859.1:p.Ala2087Val
XM_011517558.1:c.5810C>T	XP_011515860.1:p.Ala1937Val
XM_011517559.1:c.5018C>T	XP_011515861.1:p.Ala1673Val
XM_011517553.2:c.8273C>T	XP_011515855.1:p.Ala2758Val
XM_011517554.3:c.8273C>T	XP_011515856.1:p.Ala2758Val
XM_011517555.2:c.8270C>T	XP_011515857.1:p.Ala2757Val
XM_017013612.1:c.8273C>T	XP_016869101.1:p.Ala2758Val
XM_017013613.1:c.8180C>T	XP_016869102.1:p.Ala2727Val
NM_017780.4:c.8183C>T MANE Select	NP_060250.2:p.Ala2728Val