Canonical Allele Identifier: CA16618676
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 423762
ClinVar RCV Id: RCV000479492
dbSNP Id: rs1064796615
MyVariant Identifiers: chr8:g.61765523T>C (hg19) chr8:g.60852964T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60852964T>C , CM000670.2:g.60852964T>C GRCh38
NC_000008.10:g.61765523T>C , CM000670.1:g.61765523T>C GRCh37
NC_000008.9:g.61928077T>C NCBI36
NG_007009.1:g.179185T>C , LRG_176:g.179185T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.6239T>C ENSP00000512218.1:p.Leu2080Pro
ENST00000423902.7:c.6239T>C MANE Select ENSP00000392028.1:p.Leu2080Pro
ENST00000423902.6:c.6239T>C ENSP00000392028.1:p.Leu2080Pro
ENST00000524602.5:c.1717-9265T>C ENSP00000437061.1:n.1717-9265T>C
NM_001316690.1:c.1717-9265T>C NP_001303619.1:n.1717-9265T>C
NM_017780.3:c.6239T>C NP_060250.2:p.Leu2080Pro
XM_011517553.1:c.6329T>C XP_011515855.1:p.Leu2110Pro
XM_011517554.1:c.6329T>C XP_011515856.1:p.Leu2110Pro
XM_011517555.1:c.6329T>C XP_011515857.1:p.Leu2110Pro
XM_011517556.1:c.6329T>C XP_011515858.1:p.Leu2110Pro
XM_011517557.1:c.4316T>C XP_011515859.1:p.Leu1439Pro
XM_011517558.1:c.3866T>C XP_011515860.1:p.Leu1289Pro
XM_011517559.1:c.3074T>C XP_011515861.1:p.Leu1025Pro
XM_011517553.2:c.6329T>C XP_011515855.1:p.Leu2110Pro
XM_011517554.3:c.6329T>C XP_011515856.1:p.Leu2110Pro
XM_011517555.2:c.6329T>C XP_011515857.1:p.Leu2110Pro
XM_017013612.1:c.6329T>C XP_016869101.1:p.Leu2110Pro
XM_017013613.1:c.6239T>C XP_016869102.1:p.Leu2080Pro
NM_017780.4:c.6239T>C MANE Select NP_060250.2:p.Leu2080Pro
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