Canonical Allele Identifier: CA371307357

Gene: CHD7

Linked Data

• gnomAD v4: 8-60865079-G-C
• MyVariant Identifiers: chr8:g.61777638G>C (hg19) ; chr8:g.60865079G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865079G>C , CM000670.2:g.60865079G>C	GRCh38
NC_000008.10:g.61777638G>C , CM000670.1:g.61777638G>C	GRCh37
NC_000008.9:g.61940192G>C	NCBI36
NG_007009.1:g.191300G>C , LRG_176:g.191300G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1316G>C
ENST00000695852.1:n.247G>C
ENST00000695853.1:c.*1199G>C	ENSP00000512218.1:n.*1199G>C
ENST00000423902.7:c.8140G>C MANE Select	ENSP00000392028.1:p.Ala2714Pro
ENST00000423902.6:c.8140G>C	ENSP00000392028.1:p.Ala2714Pro
ENST00000524602.5:c.1993G>C	ENSP00000437061.1:p.Ala665Pro
ENST00000528280.1:n.186G>C
ENST00000532149.1:n.562G>C
ENST00000618450.1:n.4176G>C
NM_001316690.1:c.1993G>C	NP_001303619.1:p.Ala665Pro
NM_017780.3:c.8140G>C	NP_060250.2:p.Ala2714Pro
XM_011517553.1:c.8230G>C	XP_011515855.1:p.Ala2744Pro
XM_011517554.1:c.8230G>C	XP_011515856.1:p.Ala2744Pro
XM_011517555.1:c.8227G>C	XP_011515857.1:p.Ala2743Pro
XM_011517556.1:c.8008G>C	XP_011515858.1:p.Ala2670Pro
XM_011517557.1:c.6217G>C	XP_011515859.1:p.Ala2073Pro
XM_011517558.1:c.5767G>C	XP_011515860.1:p.Ala1923Pro
XM_011517559.1:c.4975G>C	XP_011515861.1:p.Ala1659Pro
XM_011517553.2:c.8230G>C	XP_011515855.1:p.Ala2744Pro
XM_011517554.3:c.8230G>C	XP_011515856.1:p.Ala2744Pro
XM_011517555.2:c.8227G>C	XP_011515857.1:p.Ala2743Pro
XM_017013612.1:c.8230G>C	XP_016869101.1:p.Ala2744Pro
XM_017013613.1:c.8137G>C	XP_016869102.1:p.Ala2713Pro
NM_017780.4:c.8140G>C MANE Select	NP_060250.2:p.Ala2714Pro