Canonical Allele Identifier: CA371307146

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865032C>T , CM000670.2:g.60865032C>T	GRCh38
NC_000008.10:g.61777591C>T , CM000670.1:g.61777591C>T	GRCh37
NC_000008.9:g.61940145C>T	NCBI36
NG_007009.1:g.191253C>T , LRG_176:g.191253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1269C>T
ENST00000695852.1:n.200C>T
ENST00000695853.1:c.*1152C>T	ENSP00000512218.1:n.*1152C>T
ENST00000423902.7:c.8093C>T MANE Select	ENSP00000392028.1:p.Ser2698Leu
ENST00000423902.6:c.8093C>T	ENSP00000392028.1:p.Ser2698Leu
ENST00000524602.5:c.1946C>T	ENSP00000437061.1:p.Ser649Leu
ENST00000528280.1:n.139C>T
ENST00000532149.1:n.515C>T
ENST00000618450.1:n.4129C>T
NM_001316690.1:c.1946C>T	NP_001303619.1:p.Ser649Leu
NM_017780.3:c.8093C>T	NP_060250.2:p.Ser2698Leu
XM_011517553.1:c.8183C>T	XP_011515855.1:p.Ser2728Leu
XM_011517554.1:c.8183C>T	XP_011515856.1:p.Ser2728Leu
XM_011517555.1:c.8180C>T	XP_011515857.1:p.Ser2727Leu
XM_011517556.1:c.7961C>T	XP_011515858.1:p.Ser2654Leu
XM_011517557.1:c.6170C>T	XP_011515859.1:p.Ser2057Leu
XM_011517558.1:c.5720C>T	XP_011515860.1:p.Ser1907Leu
XM_011517559.1:c.4928C>T	XP_011515861.1:p.Ser1643Leu
XM_011517553.2:c.8183C>T	XP_011515855.1:p.Ser2728Leu
XM_011517554.3:c.8183C>T	XP_011515856.1:p.Ser2728Leu
XM_011517555.2:c.8180C>T	XP_011515857.1:p.Ser2727Leu
XM_017013612.1:c.8183C>T	XP_016869101.1:p.Ser2728Leu
XM_017013613.1:c.8090C>T	XP_016869102.1:p.Ser2697Leu
NM_017780.4:c.8093C>T MANE Select	NP_060250.2:p.Ser2698Leu