Canonical Allele Identifier: CA1788137347

Gene: CHD7

Linked Data

• dbSNP Id: rs1803750744
• gnomAD v4: 8-60816381-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60816381T>C , CM000670.2:g.60816381T>C	GRCh38
NC_000008.10:g.61728940T>C , CM000670.1:g.61728940T>C	GRCh37
NC_000008.9:g.61891494T>C	NCBI36
NG_007009.1:g.142602T>C , LRG_176:g.142602T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.2499-6T>C	ENSP00000512218.1:n.2499-6T>C
ENST00000423902.7:c.2499-6T>C MANE Select	ENSP00000392028.1:n.2499-6T>C
ENST00000423902.6:c.2499-6T>C	ENSP00000392028.1:n.2499-6T>C
ENST00000524602.5:c.1716+35331T>C	ENSP00000437061.1:n.1716+35331T>C
ENST00000525508.1:c.2499-6T>C	ENSP00000436027.1:n.2499-6T>C
NM_001316690.1:c.1716+35331T>C	NP_001303619.1:n.1716+35331T>C
NM_017780.3:c.2499-6T>C	NP_060250.2:n.2499-6T>C
XM_011517553.1:c.2499-6T>C	XP_011515855.1:n.2499-6T>C
XM_011517554.1:c.2499-6T>C	XP_011515856.1:n.2499-6T>C
XM_011517555.1:c.2499-6T>C	XP_011515857.1:n.2499-6T>C
XM_011517556.1:c.2499-6T>C	XP_011515858.1:n.2499-6T>C
XM_011517557.1:c.486-6T>C	XP_011515859.1:n.486-6T>C
XM_011517558.1:c.36-6T>C	XP_011515860.1:n.36-6T>C
XM_011517560.1:c.2499-6T>C	XP_011515862.1:n.2499-6T>C
XM_011517553.2:c.2499-6T>C	XP_011515855.1:n.2499-6T>C
XM_011517554.3:c.2499-6T>C	XP_011515856.1:n.2499-6T>C
XM_011517555.2:c.2499-6T>C	XP_011515857.1:n.2499-6T>C
XM_011517560.2:c.2499-6T>C	XP_011515862.1:n.2499-6T>C
XM_017013612.1:c.2499-6T>C	XP_016869101.1:n.2499-6T>C
XM_017013613.1:c.2499-6T>C	XP_016869102.1:n.2499-6T>C
NM_017780.4:c.2499-6T>C MANE Select	NP_060250.2:n.2499-6T>C