Canonical Allele Identifier: CA371304755

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61773667A>C (hg19) ; chr8:g.60861108A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60861108A>C , CM000670.2:g.60861108A>C	GRCh38
NC_000008.10:g.61773667A>C , CM000670.1:g.61773667A>C	GRCh37
NC_000008.9:g.61936221A>C	NCBI36
NG_007009.1:g.187329A>C , LRG_176:g.187329A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.989A>C
ENST00000695851.1:n.193A>C
ENST00000695853.1:c.*872A>C	ENSP00000512218.1:n.*872A>C
ENST00000423902.7:c.7813A>C MANE Select	ENSP00000392028.1:p.Met2605Leu
ENST00000423902.6:c.7813A>C	ENSP00000392028.1:p.Met2605Leu
ENST00000524602.5:c.1717-1121A>C	ENSP00000437061.1:n.1717-1121A>C
ENST00000531695.1:n.237A>C
ENST00000618450.1:n.205A>C
NM_001316690.1:c.1717-1121A>C	NP_001303619.1:n.1717-1121A>C
NM_017780.3:c.7813A>C	NP_060250.2:p.Met2605Leu
XM_011517553.1:c.7903A>C	XP_011515855.1:p.Met2635Leu
XM_011517554.1:c.7903A>C	XP_011515856.1:p.Met2635Leu
XM_011517555.1:c.7900A>C	XP_011515857.1:p.Met2634Leu
XM_011517556.1:c.7699-1088A>C	XP_011515858.1:n.7699-1088A>C
XM_011517557.1:c.5890A>C	XP_011515859.1:p.Met1964Leu
XM_011517558.1:c.5440A>C	XP_011515860.1:p.Met1814Leu
XM_011517559.1:c.4648A>C	XP_011515861.1:p.Met1550Leu
XM_011517553.2:c.7903A>C	XP_011515855.1:p.Met2635Leu
XM_011517554.3:c.7903A>C	XP_011515856.1:p.Met2635Leu
XM_011517555.2:c.7900A>C	XP_011515857.1:p.Met2634Leu
XM_017013612.1:c.7903A>C	XP_016869101.1:p.Met2635Leu
XM_017013613.1:c.7810A>C	XP_016869102.1:p.Met2604Leu
NM_017780.4:c.7813A>C MANE Select	NP_060250.2:p.Met2605Leu