Canonical Allele Identifier: CA371307627

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777686G>C (hg19) ; chr8:g.60865127G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865127G>C , CM000670.2:g.60865127G>C	GRCh38
NC_000008.10:g.61777686G>C , CM000670.1:g.61777686G>C	GRCh37
NC_000008.9:g.61940240G>C	NCBI36
NG_007009.1:g.191348G>C , LRG_176:g.191348G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1364G>C
ENST00000695852.1:n.295G>C
ENST00000695853.1:c.*1247G>C	ENSP00000512218.1:n.*1247G>C
ENST00000423902.7:c.8188G>C MANE Select	ENSP00000392028.1:p.Ala2730Pro
ENST00000423902.6:c.8188G>C	ENSP00000392028.1:p.Ala2730Pro
ENST00000524602.5:c.2041G>C	ENSP00000437061.1:p.Ala681Pro
ENST00000528280.1:n.234G>C
ENST00000532149.1:n.610G>C
NM_001316690.1:c.2041G>C	NP_001303619.1:p.Ala681Pro
NM_017780.3:c.8188G>C	NP_060250.2:p.Ala2730Pro
XM_011517553.1:c.8278G>C	XP_011515855.1:p.Ala2760Pro
XM_011517554.1:c.8278G>C	XP_011515856.1:p.Ala2760Pro
XM_011517555.1:c.8275G>C	XP_011515857.1:p.Ala2759Pro
XM_011517556.1:c.8056G>C	XP_011515858.1:p.Ala2686Pro
XM_011517557.1:c.6265G>C	XP_011515859.1:p.Ala2089Pro
XM_011517558.1:c.5815G>C	XP_011515860.1:p.Ala1939Pro
XM_011517559.1:c.5023G>C	XP_011515861.1:p.Ala1675Pro
XM_011517553.2:c.8278G>C	XP_011515855.1:p.Ala2760Pro
XM_011517554.3:c.8278G>C	XP_011515856.1:p.Ala2760Pro
XM_011517555.2:c.8275G>C	XP_011515857.1:p.Ala2759Pro
XM_017013612.1:c.8278G>C	XP_016869101.1:p.Ala2760Pro
XM_017013613.1:c.8185G>C	XP_016869102.1:p.Ala2729Pro
NM_017780.4:c.8188G>C MANE Select	NP_060250.2:p.Ala2730Pro