Canonical Allele Identifier: CA398094961
Gene: MYH8 HGNC NCBI
MYHAS HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.10394341A>T
GRCh37 chr17:g.10297658A>T
Revel Score:
ENST00000252173 0.192
ENST00000403437 (MANE Select) 0.192
gnomAD v2:
17:10297658 A / T
gnomAD v3:
17:10394341 A / T
gnomAD v4:
chr17-10394341-A-T
Joint Max Group AF 0.00000124 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
dbSNP:
8069834
JSON-LD

Genomic Alleles

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

Transcript Alleles

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