Canonical Allele Identifier: CA371311469

Gene: CHD7

Linked Data

• gnomAD v4: 8-60781043-T-C
• MyVariant Identifiers: chr8:g.61693602T>C (hg19) ; chr8:g.60781043T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60781043T>C , CM000670.2:g.60781043T>C	GRCh38
NC_000008.10:g.61693602T>C , CM000670.1:g.61693602T>C	GRCh37
NC_000008.9:g.61856156T>C	NCBI36
NG_007009.1:g.107264T>C , LRG_176:g.107264T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695848.1:n.2222T>C
ENST00000695849.1:n.2222T>C
ENST00000695853.1:c.1709T>C	ENSP00000512218.1:p.Met570Thr
ENST00000700671.1:c.1709T>C	ENSP00000515139.1:p.Met570Thr
ENST00000423902.7:c.1709T>C MANE Select	ENSP00000392028.1:p.Met570Thr
ENST00000423902.6:c.1709T>C	ENSP00000392028.1:p.Met570Thr
ENST00000524602.5:c.1709T>C	ENSP00000437061.1:p.Met570Thr
ENST00000525508.1:c.1709T>C	ENSP00000436027.1:p.Met570Thr
ENST00000527825.1:c.353T>C
ENST00000527900.1:c.110T>C	ENSP00000433336.1:p.Met37Thr
NM_001316690.1:c.1709T>C	NP_001303619.1:p.Met570Thr
NM_017780.3:c.1709T>C	NP_060250.2:p.Met570Thr
XM_011517553.1:c.1709T>C	XP_011515855.1:p.Met570Thr
XM_011517554.1:c.1709T>C	XP_011515856.1:p.Met570Thr
XM_011517555.1:c.1709T>C	XP_011515857.1:p.Met570Thr
XM_011517556.1:c.1709T>C	XP_011515858.1:p.Met570Thr
XM_011517560.1:c.1709T>C	XP_011515862.1:p.Met570Thr
XM_011517553.2:c.1709T>C	XP_011515855.1:p.Met570Thr
XM_011517554.3:c.1709T>C	XP_011515856.1:p.Met570Thr
XM_011517555.2:c.1709T>C	XP_011515857.1:p.Met570Thr
XM_011517560.2:c.1709T>C	XP_011515862.1:p.Met570Thr
XM_017013612.1:c.1709T>C	XP_016869101.1:p.Met570Thr
XM_017013613.1:c.1709T>C	XP_016869102.1:p.Met570Thr
NM_017780.4:c.1709T>C MANE Select	NP_060250.2:p.Met570Thr