Canonical Allele Identifier: CA371307441

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777660C>T (hg19) ; chr8:g.60865101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865101C>T , CM000670.2:g.60865101C>T	GRCh38
NC_000008.10:g.61777660C>T , CM000670.1:g.61777660C>T	GRCh37
NC_000008.9:g.61940214C>T	NCBI36
NG_007009.1:g.191322C>T , LRG_176:g.191322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1338C>T
ENST00000695852.1:n.269C>T
ENST00000695853.1:c.*1221C>T	ENSP00000512218.1:n.*1221C>T
ENST00000423902.7:c.8162C>T MANE Select	ENSP00000392028.1:p.Pro2721Leu
ENST00000423902.6:c.8162C>T	ENSP00000392028.1:p.Pro2721Leu
ENST00000524602.5:c.2015C>T	ENSP00000437061.1:p.Pro672Leu
ENST00000528280.1:n.208C>T
ENST00000532149.1:n.584C>T
ENST00000618450.1:n.4198C>T
NM_001316690.1:c.2015C>T	NP_001303619.1:p.Pro672Leu
NM_017780.3:c.8162C>T	NP_060250.2:p.Pro2721Leu
XM_011517553.1:c.8252C>T	XP_011515855.1:p.Pro2751Leu
XM_011517554.1:c.8252C>T	XP_011515856.1:p.Pro2751Leu
XM_011517555.1:c.8249C>T	XP_011515857.1:p.Pro2750Leu
XM_011517556.1:c.8030C>T	XP_011515858.1:p.Pro2677Leu
XM_011517557.1:c.6239C>T	XP_011515859.1:p.Pro2080Leu
XM_011517558.1:c.5789C>T	XP_011515860.1:p.Pro1930Leu
XM_011517559.1:c.4997C>T	XP_011515861.1:p.Pro1666Leu
XM_011517553.2:c.8252C>T	XP_011515855.1:p.Pro2751Leu
XM_011517554.3:c.8252C>T	XP_011515856.1:p.Pro2751Leu
XM_011517555.2:c.8249C>T	XP_011515857.1:p.Pro2750Leu
XM_017013612.1:c.8252C>T	XP_016869101.1:p.Pro2751Leu
XM_017013613.1:c.8159C>T	XP_016869102.1:p.Pro2720Leu
NM_017780.4:c.8162C>T MANE Select	NP_060250.2:p.Pro2721Leu