Canonical Allele Identifier: CA371308572

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865286-G-T
• MyVariant Identifiers: chr8:g.61777845G>T (hg19) ; chr8:g.60865286G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865286G>T , CM000670.2:g.60865286G>T	GRCh38
NC_000008.10:g.61777845G>T , CM000670.1:g.61777845G>T	GRCh37
NC_000008.9:g.61940399G>T	NCBI36
NG_007009.1:g.191507G>T , LRG_176:g.191507G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1523G>T
ENST00000695852.1:n.454G>T
ENST00000695853.1:c.*1406G>T	ENSP00000512218.1:n.*1406G>T
ENST00000423902.7:c.8347G>T MANE Select	ENSP00000392028.1:p.Ala2783Ser
ENST00000423902.6:c.8347G>T	ENSP00000392028.1:p.Ala2783Ser
ENST00000524602.5:c.2200G>T	ENSP00000437061.1:p.Ala734Ser
ENST00000528280.1:n.393G>T
NM_001316690.1:c.2200G>T	NP_001303619.1:p.Ala734Ser
NM_017780.3:c.8347G>T	NP_060250.2:p.Ala2783Ser
XM_011517553.1:c.8437G>T	XP_011515855.1:p.Ala2813Ser
XM_011517554.1:c.8437G>T	XP_011515856.1:p.Ala2813Ser
XM_011517555.1:c.8434G>T	XP_011515857.1:p.Ala2812Ser
XM_011517556.1:c.8215G>T	XP_011515858.1:p.Ala2739Ser
XM_011517557.1:c.6424G>T	XP_011515859.1:p.Ala2142Ser
XM_011517558.1:c.5974G>T	XP_011515860.1:p.Ala1992Ser
XM_011517559.1:c.5182G>T	XP_011515861.1:p.Ala1728Ser
XM_011517553.2:c.8437G>T	XP_011515855.1:p.Ala2813Ser
XM_011517554.3:c.8437G>T	XP_011515856.1:p.Ala2813Ser
XM_011517555.2:c.8434G>T	XP_011515857.1:p.Ala2812Ser
XM_017013612.1:c.8437G>T	XP_016869101.1:p.Ala2813Ser
XM_017013613.1:c.8344G>T	XP_016869102.1:p.Ala2782Ser
NM_017780.4:c.8347G>T MANE Select	NP_060250.2:p.Ala2783Ser