Canonical Allele Identifier: CA371324430

Gene: CHD7

Linked Data

• gnomAD v4: 8-60852927-G-C
• MyVariant Identifiers: chr8:g.61765486G>C (hg19) ; chr8:g.60852927G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852927G>C , CM000670.2:g.60852927G>C	GRCh38
NC_000008.10:g.61765486G>C , CM000670.1:g.61765486G>C	GRCh37
NC_000008.9:g.61928040G>C	NCBI36
NG_007009.1:g.179148G>C , LRG_176:g.179148G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.6202G>C	ENSP00000512218.1:p.Val2068Leu
ENST00000423902.7:c.6202G>C MANE Select	ENSP00000392028.1:p.Val2068Leu
ENST00000423902.6:c.6202G>C	ENSP00000392028.1:p.Val2068Leu
ENST00000524602.5:c.1717-9302G>C	ENSP00000437061.1:n.1717-9302G>C
NM_001316690.1:c.1717-9302G>C	NP_001303619.1:n.1717-9302G>C
NM_017780.3:c.6202G>C	NP_060250.2:p.Val2068Leu
XM_011517553.1:c.6292G>C	XP_011515855.1:p.Val2098Leu
XM_011517554.1:c.6292G>C	XP_011515856.1:p.Val2098Leu
XM_011517555.1:c.6292G>C	XP_011515857.1:p.Val2098Leu
XM_011517556.1:c.6292G>C	XP_011515858.1:p.Val2098Leu
XM_011517557.1:c.4279G>C	XP_011515859.1:p.Val1427Leu
XM_011517558.1:c.3829G>C	XP_011515860.1:p.Val1277Leu
XM_011517559.1:c.3037G>C	XP_011515861.1:p.Val1013Leu
XM_011517553.2:c.6292G>C	XP_011515855.1:p.Val2098Leu
XM_011517554.3:c.6292G>C	XP_011515856.1:p.Val2098Leu
XM_011517555.2:c.6292G>C	XP_011515857.1:p.Val2098Leu
XM_017013612.1:c.6292G>C	XP_016869101.1:p.Val2098Leu
XM_017013613.1:c.6202G>C	XP_016869102.1:p.Val2068Leu
NM_017780.4:c.6202G>C MANE Select	NP_060250.2:p.Val2068Leu