Canonical Allele Identifier: CA153830
Gene: MYH8 HGNC NCBI
MYHAS HGNC NCBI
COSMIC:
COSM3765969 (not active)
MyVariant.info:
GRCh38 chr17:g.10394341A>G
GRCh37 chr17:g.10297658A>G
Revel Score:
ENST00000252173 0.176
ENST00000403437 (MANE Select) 0.176
gnomAD v2:
17:10297658 A / G
gnomAD v3:
17:10394341 A / G
gnomAD v4:
chr17-10394341-A-G
Joint Max Group AF 0.72319031 (AFR)
Genomes Max Group AF 0.7165427 (AFR)
Exomes Max Group AF 0.72669164 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.10394341A>G , CM000679.2:g.10394341A>G GRCh38
NC_000017.10:g.10297658A>G , CM000679.1:g.10297658A>G GRCh37
NC_000017.9:g.10238383A>G NCBI36
NG_013015.1:g.32610T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403437.2:c.5074T>C (MYH8) MANE Select ENSP00000384330.2:p.Trp1692Arg
NM_002472.2:c.5074T>C (MYH8) NP_002463.2:p.Trp1692Arg
NR_125367.1:n.76+11134A>G (MYHAS)
XM_011523873.1:c.5170T>C (MYH8) XP_011522175.1:p.Trp1724Arg
XM_011523874.1:c.5170T>C (MYH8) XP_011522176.1:p.Trp1724Arg
NM_002472.3:c.5074T>C (MYH8) MANE Select NP_002463.2:p.Trp1692Arg
Search 100 bp 5'
Search 100 bp 3'